Source: ALL
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: rs10127775
rs10127775
GALNT2
4 1 230160042 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11102001
rs11102001
GSTM5 ; EPS8L3
4 0.925 0.080 1 109757069 missense variant G/A snv 9.4E-02 0.16 0.700 1.000 1 2014 2014
dbSNP: rs11208264
rs11208264
PGM1
1 1 63659401 intron variant T/C snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs114165349
rs114165349
ARID1A ; LOC101928728
5 1 26695422 intron variant G/C snv 1.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs11576729
rs11576729
PGM1
1 1 63648758 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs12027168
rs12027168
PGM1
1 1 63654942 intron variant T/C snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs12080886
rs12080886
CEP170
2 1 243222734 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs12118370
rs12118370
ST7L
3 1 112605645 intron variant A/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs12561919
rs12561919
C1orf167 ; C1orf167-AS1
3 1.000 0.040 1 11779866 missense variant C/T snv 0.13 0.13 0.700 1.000 1 2018 2018
dbSNP: rs12753251
rs12753251
LOC105371632
2 1 178560763 upstream gene variant G/A snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs13306561
rs13306561
CLCN6 ; MTHFR
2 1 11805747 5 prime UTR variant A/G snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs149764880
rs149764880
CLCN6
3 1 11820674 non coding transcript exon variant G/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs1506397
rs1506397
LOC105378771
1 1 63679612 intergenic variant C/G snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs16849553
rs16849553
LINC02815 ; LINC02814
2 1 229201099 intron variant T/C snv 3.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs16853958
rs16853958
LOC105371692
2 1 204559216 downstream gene variant A/C snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs1689788
rs1689788
LINC01344
3 1 182175287 intron variant T/C snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs17035646
rs17035646
CASZ1
6 1 10736490 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs17669622
rs17669622
ESRRG
2 1 216583479 intron variant G/A snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2004776
rs2004776
AGT
5 1 230712956 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2269233
rs2269233
PGM1
2 1 63653675 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs2269234
rs2269234
PGM1
1 1 63653305 intron variant A/G snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs2269235
rs2269235
PGM1
1 1 63653244 intron variant A/G snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs2269238
rs2269238
PGM1
1 1 63651866 intron variant G/A;T snv 3.2E-05; 0.24 0.700 1.000 1 2011 2011
dbSNP: rs2269240
rs2269240
PGM1
1 1 63643593 intron variant T/C snv 0.21 0.700 1.000 1 2011 2011