Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs555179612
rs555179612
MC1R
1 16 89919794 frameshift variant -/C delins 6.4E-04 6.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs535209331
rs535209331
HOXC13 ; HOXC13-AS
1 12 53938949 protein altering variant -/TAT delins 2.2E-02; 1.2E-05 1.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs11806180
rs11806180
CDC42BPA
1 1 227315768 intron variant A/C snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs1186238
rs1186238
AQP4 ; AQP4-AS1
1 18 26857540 intron variant A/C snv 0.700 1.000 1 2018 2018
dbSNP: rs12693099
rs12693099 		1 2 176738991 intron variant A/C snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs1695300
rs1695300
GRM7
1 3 7677274 intron variant A/C snv 0.700 1.000 1 2018 2018
dbSNP: rs17783630
rs17783630
SLC24A4
1 14 92489041 intron variant A/C snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs2013268
rs2013268
PRIM2
1 6 57404607 intron variant A/C snv 0.700 1.000 1 2018 2018
dbSNP: rs4896038
rs4896038
SGK1
1 6 134288153 intron variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs61896141
rs61896141
MYRF ; TMEM258
2 11 61788567 intron variant A/C snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs917783
rs917783
LHX2
1 9 124028328 intron variant A/C snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs2964049
rs2964049
LINC01411
1 5 174403619 intron variant A/C;G snv 0.38 0.700 1.000 1 2018 2018
dbSNP: rs9809528
rs9809528
CHL1
1 3 209075 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs3213661
rs3213661
ETV1
1 7 13986732 intron variant A/C;G;T snv 9.3E-06; 0.73 0.700 1.000 1 2018 2018
dbSNP: rs6739706
rs6739706
TMEM163
1 2 134649839 intron variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7247700
rs7247700
KIR3DL3 ; KIR2DP1
1 19 54763882 intron variant A/C;G;T snv 5.8E-06; 0.37; 1.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs10815302
rs10815302
KIAA2026
1 9 5887074 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11068059
rs11068059 		1 12 116529865 upstream gene variant A/C;T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs35264875
rs35264875
TPCN2
2 11 69078931 missense variant A/C;T snv 4.0E-06; 0.16 0.800 1.000 1 2008 2008
dbSNP: rs4785763
rs4785763
AFG3L1P
3 0.925 0.120 16 90000528 non coding transcript exon variant A/C;T snv 0.700 1.000 1 2008 2008
dbSNP: rs12913832
rs12913832
HERC2
9 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.800 1.000 4 2008 2018
dbSNP: rs6918152
rs6918152
EXOC2
1 6 542159 intron variant A/G snv 0.47 0.800 1.000 2 2008 2018
dbSNP: rs7495174
rs7495174
OCA2
3 15 28099092 intron variant A/G snv 0.12 0.800 1.000 2 2008 2015
dbSNP: rs1060435
rs1060435
TPCN2
2 11 69088127 3 prime UTR variant A/G snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs11203346
rs11203346
PADI3
1 1 17274327 intron variant A/G snv 0.13 0.700 1.000 1 2018 2018