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: rs104893802
rs104893802
SOX2 ; SOX2-OT
3 0.882 0.160 3 181712650 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1301282588
rs1301282588
RAD21
1 1.000 0.040 8 116852070 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs193929392
rs193929392
ARHGAP6 ; HCCS
4 0.851 0.120 X 11118574 missense variant G/A snv 0.010 1.000 1 2007 2007