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: rs121917889
rs121917889
ARHGAP6 ; HCCS
1 1.000 0.120 X 11121652 missense variant C/T snv 0.800 1.000 1 2006 2006
dbSNP: rs121917888
rs121917888
ARHGAP6 ; HCCS
1 1.000 0.120 X 11120974 stop gained C/T snv 0.700 0
dbSNP: rs1413276234
rs1413276234
HCCS
1 1.000 0.120 X 11114933 missense variant C/A;G snv 0.700 0
dbSNP: rs193929392
rs193929392
ARHGAP6 ; HCCS
4 0.851 0.120 X 11118574 missense variant G/A snv 0.700 0
dbSNP: rs786205225
rs786205225
NDUFB11
4 0.851 0.200 X 47142690 stop gained G/A snv 0.700 0
dbSNP: rs759319721
rs759319721
PHKG1 ; SUMF2
1 1.000 0.120 7 56079533 missense variant G/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs773695444
rs773695444
PHKG1 ; SUMF2
1 1.000 0.120 7 56079590 missense variant G/C snv 4.0E-06 0.010 1.000 1 2009 2009