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: rs1015164
rs1015164
CCRL2
8 0.925 3 46410189 intron variant A/C;G;T snv 0.700 1.000 2 2015 2019
dbSNP: rs3095320
rs3095320
CDSN ; PSORS1C1
4 1.000 6 31120157 intron variant G/A;C snv 0.700 1.000 2 2009 2010
dbSNP: rs3130424
rs3130424 		5 0.925 0.040 6 31250462 intergenic variant A/C;G;T snv 0.700 1.000 2 2009 2010
dbSNP: rs3130981
rs3130981
CDSN ; PSORS1C1
5 0.925 0.080 6 31116036 missense variant T/C;G snv 0.76 0.700 1.000 2 2009 2010
dbSNP: rs3828917
rs3828917
MICB
4 1.000 6 31498140 5 prime UTR variant G/A;T snv 0.700 1.000 2 2009 2010
dbSNP: rs551894425
rs551894425
CDSN ; PSORS1C1
4 1.000 6 31117993 non coding transcript exon variant G/A snv 0.700 1.000 2 2009 2010
dbSNP: rs562436976
rs562436976
CDSN ; PSORS1C1
4 1.000 6 31120157 intron variant G/A;C snv 0.700 1.000 2 2009 2010
dbSNP: rs9348876
rs9348876 		4 1.000 6 31607499 downstream gene variant C/G;T snv 0.700 1.000 2 2009 2010
dbSNP: rs1005585
rs1005585
CBS
5 1.000 21 43056923 intron variant T/C snv 6.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs10173355
rs10173355
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
6 1.000 2 233688675 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10467472
rs10467472
RGCC
5 1.000 13 41459562 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10892324
rs10892324
SLC37A4
5 0.925 11 119032329 upstream gene variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs10947091
rs10947091
HCG20
4 1.000 6 30779439 intron variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs111182473
rs111182473 		4 1.000 6 31385912 upstream gene variant G/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1128175
rs1128175
PSORS1C3
4 1.000 6 31182658 upstream gene variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs11790131
rs11790131
LOC105375988
6 0.882 0.080 9 19469848 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12211410
rs12211410
TNXB
5 0.925 0.120 6 32081646 missense variant C/G;T snv 5.6E-05; 7.7E-02; 3.7E-05 0.700 1.000 1 2010 2010
dbSNP: rs12274302
rs12274302
DISC1FP1
4 1.000 11 90853732 non coding transcript exon variant C/A;G;T snv 0.800 1.000 1 2009 2009
dbSNP: rs1265115
rs1265115
CCHCR1
5 0.925 0.080 6 31149298 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs12722486
rs12722486
IL2RA
5 1.000 10 6061799 intron variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1329568
rs1329568 		6 0.882 0.120 9 37037979 upstream gene variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs143633948
rs143633948
ARG1
6 0.882 0.080 6 131504454 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs150933152
rs150933152
CLEC18B
5 1.000 16 74411734 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs16823858
rs16823858 		5 0.925 3 115559835 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs17038463
rs17038463
CNTN6
5 0.925 3 1383484 intron variant T/C;G snv 0.700 1.000 1 2017 2017