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: rs9926344
rs9926344
WWOX
2 1.000 0.080 16 78986883 intron variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs984502020
rs984502020
NR1I2
1 3 119807429 missense variant G/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1741981
rs1741981
HDAC1
2 1.000 0.080 1 32290838 upstream gene variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs3917412
rs3917412
SELE ; C1orf112
4 1.000 0.040 1 169731361 intron variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs16949649
rs16949649
NME1 ; NME1-NME2
12 0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39 0.010 1.000 1 2020 2020
dbSNP: rs391957
rs391957
HSPA5 ; LOC107987127
10 0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72 0.010 1.000 1 2011 2011
dbSNP: rs894151
rs894151
C8orf37-AS1
2 1.000 0.080 8 95226180 intron variant T/C snv 0.39 0.010 1.000 1 2011 2011