Source: CLINVAR ×
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: rs1334099693
rs1334099693
SOX4
11 0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 0.700 1.000 1 2019 2019
dbSNP: rs1057518848
rs1057518848
TCF4
15 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
dbSNP: rs1060505041
rs1060505041
NACC1
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
dbSNP: rs879253753
rs879253753
ANKRD11
19 0.851 0.280 16 89280526 frameshift variant -/T delins 0.700 0