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: rs34757931
rs34757931
VPS11
26 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.710 1.000 0 2016 2016
dbSNP: rs1555228665
rs1555228665
SCN8A
4 0.882 0.080 12 51788702 missense variant T/C snv 0.700 0
dbSNP: rs1562931936
rs1562931936
KMT2E
5 1.000 7 105107527 stop gained C/T snv 0.700 0
dbSNP: rs201430951
rs201430951
NUBPL
7 0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 0.700 0