Genetically inherited traits, conditions and diseases
What can DNA tell you about yourself ?
Recommended reading on how genome-wide association studies are used to identify genetic variants associated with human diseases :
Nature : Finding the missing heritability of complex diseases
List of miscellaneous diseases with the associated genes
=> 36 other diseases and 151 SNP's listed.
Risk alleles : Substantially lower risk
(over 3x less), moderately lower risk (up
to 3x less), normal, slightly higher
risk (up to 3x more), greatly increased risk
(over 3x more). Normal alleles marked
with a * mean that the person is a carrier of the disease. Depending on
the testing company, sometimes A is reported as T, and G is reported as
C, or vice-versa.
Testing companies : 1 = 23andMe
; 2 = DeCODEme
Bold numbers indicate that the SNP is part of the official report, and
is therefore likely to be more reliable. Only SNP's in the official report
are listed for deCODEme. However, as deCODEme tests almost twice more
SNP's than 23andMe, most of the SNP's tested by 23andMe are also tested
by deCODEme.
| Description |
Chromosome
|
Gene
|
SNP
|
Risk alleles
|
Tested by*
|
Links
|
| |
|
|
|
|
|
|
| Acid
reflux disease (GERD) |
10
|
CYP2C19
|
|
|
|
|
Acid
reflux disease
(Eosinophilic esophagitis) |
7
|
CCL26
|
rs2302009
|
AA, AC, CC
|
1
|
|
| Acute
intermittent porphyria |
11
|
HMBS
|
|
|
|
|
| |
mtDNA
|
|
|
|
|
|
| Age-related
Macular Degeneration |
1
|
CFH
|
rs800292
|
CC, CT, TT
|
1, 2
|
|
|
|
|
rs3753394
|
CC, CT, TT
|
1, 2
|
|
|
|
|
rs1329428
|
AA, AG, GG
|
1, 2
|
|
|
|
|
rs1061147
|
AA, AC, CC
|
1, 2
|
|
|
|
|
rs1061170
|
CC, CT,
TT
|
1
|
|
| |
4
|
TLR3
|
rs3775291
|
AA, AG,
GG
|
1
|
|
| |
6
|
C2
|
rs547154
|
GG, GT, TT
|
1
|
|
|
10
|
HTRA1
|
rs11200638
|
AA, AG,
GG
|
1
|
|
| |
|
|
rs932275
|
AA, AG, GG
|
1, 2
|
|
|
10
|
ARMS2
|
rs10490924
|
GG, GT, TT
|
1
|
|
| |
|
|
rs3750847
|
CC, CT, TT
|
1
|
|
| |
19
|
C3
|
rs2230199
|
CC, CG, GG
|
1
|
|
| Alzheimer's
Disease |
2
|
EIF2AK2
|
rs2254958
|
CC, CT,
TT
|
1
|
|
| |
3
|
MME
|
rs1836915
|
|
|
|
| |
6
|
TNF
|
rs1799724
|
CC, CT, TT
|
1
|
|
| |
9
|
DAPK1
|
rs4878104
|
|
1
|
|
| |
|
|
rs4877365
|
|
1
|
|
| |
9
|
GOLM1
|
rs10868366
|
GG, GT, TT
|
|
|
| |
|
|
rs7019241
|
CC, CT, TT
|
|
|
| |
9
|
intergenic
|
rs9886784
|
AA, AC,
CC
|
|
|
| |
10
|
CALHM1
|
rs2986017
|
CC, CT, TT
|
|
|
|
10
|
PLAU
|
rs2227564
|
|
1, 2
|
|
|
|
|
rs2227562
|
|
1, 2
|
|
| |
11
|
GAB2
|
rs2373115
|
GG, GT, TT
|
1
|
|
| |
11
|
BDNF
|
rs6265
|
AA, AG, GG
|
1
|
|
| |
|
|
rs11030104
|
|
1
|
|
| |
|
|
rs2049045
|
|
1
|
|
| |
11
|
SORL1
|
rs2070045
|
GG, GT,
TT
|
1
|
|
| |
|
|
rs661057
|
CC, CT, TT
|
1
|
|
| |
|
|
rs668387
|
CC, CT,
TT
|
1
|
|
| |
|
|
rs689021
|
AA, AG, GG
|
1
|
|
| |
|
|
rs641120
|
AA, AG, GG
|
1
|
|
| |
|
|
rs12285364
|
CC, CT, TT
|
1
|
|
| |
12
|
A2M
|
rs669
|
AA, AG, GG
|
1
|
|
| |
12
|
OLR1
|
rs1050283
|
CC, CT,
TT
|
|
|
| |
15
|
intergenic
|
rs10519262
|
AA, AG,
GG
|
|
|
| |
17
|
MPO
|
rs2333227
|
CC, CT, TT
|
|
|
| |
|
|
rs12316150
|
|
|
|
| |
19
|
APOE
|
rs429358
|
CC, CT,
TT
|
|
|
|
|
|
rs7412
|
|
1, 2
|
|
|
19
|
APOC1
|
rs4420638
|
AA, AG, GG
|
2
|
|
| |
X
|
PCDH11X
|
rs5984894
|
AA, AG, GG
|
1
|
|
| Alzheimer's Disease (early onset) |
14
|
PSEN1
|
|
|
|
|
| |
1
|
PSEN2
|
|
|
|
|
| |
9
|
ABCA2
|
rs908832
|
AA, AG,
GG
|
1
|
|
| |
21
|
APP
|
|
|
|
|
| Amyotrophic
Lateral Sclerosis (ALS) |
1
|
FLJ10986
|
rs6700125
|
CC, CT,
TT
|
1
|
|
| |
|
|
rs6690993
|
AA, AG,
GG
|
1
|
|
| |
|
|
rs10493256
|
|
|
|
| |
|
|
rs6587852
|
|
1
|
|
| |
|
|
rs1470407
|
|
|
|
| |
|
|
rs333662
|
|
|
|
| |
2
|
intergenic
|
rs12473579
|
|
1
|
|
| |
|
|
rs17027230
|
|
1
|
|
| |
2
|
IL18RAP
|
rs3771150
|
|
1
|
|
| |
7
|
LOC653748
|
rs10260404
|
CC, CT,
TT
|
1
|
|
| |
7
|
DPP6
|
rs10239794
|
CC, CT,
TT
|
1
|
|
| |
7
|
PON2
|
rs12704795
|
|
1
|
|
| |
7
|
MAGI2
|
rs757863
|
|
1
|
|
| |
12
|
intergenic
|
rs905080
|
|
1
|
|
| |
12
|
intergenic
|
rs1027615
|
|
1
|
|
| |
15
|
LIPC
|
rs3825776
|
TT, CT, CC
|
1
|
|
| |
17
|
GRN
|
rs9897526
|
|
|
|
| |
|
|
rs34424835
|
|
|
|
| |
|
|
rs850713
|
|
|
|
| |
18
|
LOXHD1
|
rs988213
|
|
1
|
|
| |
20
|
intergenic
|
rs13036957
|
|
1
|
|
| |
21
|
intergenic
|
rs2836061
|
|
1
|
|
| Creutzfeldt-Jakob
Disease |
11
|
CTSD
|
rs17571
|
AA, AG, GG
|
1
|
|
| |
20
|
PRNP
|
rs1799990
|
AA, AG, GG
|
1
|
|
| Cystic
Fibrosis |
7
|
CFTR
|
i3000001
|
DD, DI*, II
|
1
|
|
| Endometriosis |
6
|
ESR1
|
rs9340799
|
AA, AG, GG
|
1
|
|
| G6PD
Deficiency |
X
|
G6PD
|
rs1050828
|
CC, CT,
TT
|
1
|
|
| Gallstones |
8
|
ADRB3
|
rs4994
|
AA, AG, GG
|
1
|
|
| Gestational
Diabetes |
10
|
TCF7L2
|
rs7903146
|
CC, CT,
TT
|
1
|
|
| Glaucoma |
15
|
LOXL1
|
rs1048661
|
GG, GT,
TT
|
1
|
|
| |
|
|
rs3825942
|
CC, CT,
TT
|
1
|
|
| |
|
|
rs2165241
|
CC, CT, TT
|
1, 2
|
|
| |
|
|
rs1078967
|
|
2
|
|
| Glaucoma (open angle) |
1
|
MYOC
|
rs28936694
|
|
1
|
|
| Gout |
4
|
SLC2A9
|
rs1014290
|
AA, AG, GG
|
1
|
|
| |
|
|
rs6449213
|
CC, CT,
TT
|
1
|
|
| |
|
|
rs737267
|
GG, GT, TT
|
1
|
|
| Haemochromatosis |
6
|
HFE
|
rs1800562
|
AA, AG,
GG
|
1, 2
|
|
| |
|
|
rs1799945
|
CC, CG, GG
|
1, 2
|
|
| Haemophilia |
X
|
F8
|
|
|
|
|
| |
X
|
F9
|
|
|
|
|
| Hearing loss (noise-induced) |
6
|
HSP70-hom
|
rs2227956
|
|
1
|
|
| |
6
|
HSP70-1
|
rs1043618
|
|
|
|
| |
6
|
HSP70-2
|
rs1061581
|
|
|
|
| Hearing loss (age-related) |
1
|
KCNQ4
|
|
|
|
|
| |
8
|
GRHL2
|
|
|
|
|
| Hearing loss (congenial) |
13
|
GJB2
|
|
|
|
|
| |
5
|
TGBF1
|
|
|
|
|
| Hirschprung's
disease |
1
|
ECE1
|
|
|
|
|
| |
2
|
SIP1
|
|
|
|
|
| |
4
|
PHOX2B
|
rs28939716
|
|
1
|
|
| |
5
|
GDNF
|
|
|
|
|
| |
10
|
RET
|
rs3026785
|
|
1
|
|
| |
|
|
rs17158558
|
|
1
|
|
| |
|
|
rs1800858
|
|
1
|
|
| |
|
|
rs2435357
|
|
1
|
|
| |
13
|
EDNRB
|
rs5352
|
|
1
|
|
| |
19
|
NTN
|
|
|
|
|
| |
20
|
EDN3
|
rs11570255
|
|
1
|
|
| |
|
|
rs11570351
|
|
1
|
|
| |
22
|
SOX10
|
|
|
|
|
| Huntington's
disease |
4
|
HTT
|
rs17781557
|
|
|
|
| Intrahepatic
Cholestasis of Pregnancy |
2
|
ABCB11
|
rs2287622
|
AA, AG, GG
|
1
|
|
| |
10
|
ABCC2
|
rs3740066
|
CC, CT, TT
|
1
|
|
| Kidney
Disease |
15
|
MTHFS
|
rs6495446
|
CC, CT, TT
|
1
|
|
| |
6
|
PKHD1
|
rs28937907
|
|
1
|
|
| |
|
|
rs28939099
|
|
1
|
|
| |
|
|
rs28939383
|
|
1
|
|
| |
16
|
UMOD
|
rs28934584
|
|
1
|
|
| Kidney
stones (hypercalcaemia) |
3
|
CASR
|
|
|
|
|
| Non-alcoholic
fatty liver disease |
4
|
PPARGC1A
|
rs2290602
|
GG, GT, TT
|
|
|
| Nonsyndromic
Deafness |
1
|
KCNQ4
|
rs28937588
|
|
|
|
| |
|
|
rs28937589
|
|
1
|
|
| |
|
|
rs28939710
|
|
|
|
| |
4
|
WFS1
|
rs28937893
|
|
|
|
| |
4
|
DSPP
|
rs28929492
|
|
|
|
| |
11
|
TECTA
|
rs28939691
|
|
|
|
| |
|
|
rs28939690
|
|
|
|
| |
11
|
MYO7A
|
rs28934903
|
|
|
|
| |
13
|
GJB2
|
rs28931595
|
|
|
|
| |
14
|
COCH
|
rs28938175
|
|
|
|
| |
16
|
CRYM
|
rs28929490
|
|
|
|
| Neurofibromatosis
type II |
22
|
NF2
|
|
|
|
|
| Osteoarthritis |
1
|
intergenic
|
rs4140564
|
AA, AG, GG
|
1
|
|
| |
2
|
FRZB
|
rs7775
|
|
1
|
|
| |
3
|
LOC344875
|
rs7639618
|
CC, CT, TT
|
1
|
|
| |
|
|
rs9864422
|
CC, CT, TT
|
|
|
| |
|
|
rs11718863
|
AA, AT, TT
|
|
|
| |
20
|
GDF5
|
rs143383
|
CC, CT, TT
|
1
|
|
| Osteoporosis |
2
|
QPCT
|
rs3770748
|
CC, CT, TT
|
1
|
|
| |
11
|
LRP5
|
rs4988321
|
AA, AG,
GG
|
1
|
|
| |
|
|
rs3736228
|
CC, CT, TT
|
1
|
|
| |
15
|
CYP19A1
|
rs17703883
|
|
1
|
|
| |
|
|
rs16964201
|
|
1
|
|
| |
|
|
rs12594287
|
|
1
|
|
| |
20
|
BMP2
|
rs235754
|
|
1
|
|
| Otitis |
6
|
TNF
|
rs1800750
|
AA, AG, GG
|
1
|
|
| |
|
|
rs361525
|
AA, AG, GG
|
1
|
|
| |
7
|
IL6
|
rs1800795
|
AA, AG, GG
|
1
|
|
| Parkinson's
Disease |
12
|
LRRK2
|
rs34637584
|
AA, AG,
GG
|
1
|
|
| |
|
|
rs34778348
|
AA, AG,
GG
|
1
|
|
| |
1
|
USP24
|
rs287235
|
CC, CG, GG
|
1
|
|
| |
2
|
USP40
|
rs838552
|
|
1
|
|
| |
4
|
ADH1C
|
rs283413
|
GG, GT, TT
|
1
|
|
| |
4
|
SNCA
|
rs356219
|
|
1
|
|
| Placental
Abruption |
1
|
F5
|
rs6025
|
CC, CT, TT
|
1
|
|
| Progressive
Supranuclear Palsy |
11
|
NR1H3
|
rs7120118
|
CC, CT, TT
|
1
|
|
| Sarcoidosis |
10
|
ANXA11
|
rs7091565
|
|
|
|
| |
6
|
TNF
|
rs1800629
|
AA, AG,
GG
|
1
|
|
| Sciatica |
7
|
IL6
|
rs1800795
|
CC, CG, GG
|
1
|
|
| |
|
|
rs1800796
|
CC, CG, GG
|
1
|
|
| |
|
|
rs1800797
|
AA, AG, GG
|
1
|
|
| |
|
|
rs13306435
|
AA, AT,
TT
|
|
|
| Sickle-cell
Anemia |
11
|
HBB
|
i3003137
|
AA, AT*, TT
|
1
|
|
| Tourette's
Syndrome |
12
|
TPH2
|
rs4565946
|
CC, CT, TT
|
1
|
|
| Uterine
Fibroids |
6
|
ESR1
|
rs9340799
|
AA, AG, GG
|
1
|
|
| Wilson's
disease |
3
|
CP
|
rs701753
|
|
|
|
| |
13
|
ATP7B
|
rs28942074
|
|
1
|
|
| |
|
|
rs28942075
|
|
1
|
|
| |
|
|
rs28942076
|
|
1
|
|
|