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: rs121907954
rs121907954
HEXA
6 0.807 0.120 15 72350518 missense variant C/G;T snv 1.3E-04 0.010 1.000 1 1996 1996
dbSNP: rs121907958
rs121907958
HEXA
2 0.925 0.120 15 72346597 missense variant C/G snv 8.0E-06 2.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs138058578
rs138058578
HEXA
1 1.000 0.120 15 72350578 missense variant G/A snv 1.9E-04 1.8E-04 0.010 < 0.001 1 1993 1993
dbSNP: rs199578185
rs199578185
HEXA
2 0.925 0.120 15 72349181 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs756533874
rs756533874
FCGRT
2 0.925 0.120 19 49524707 missense variant G/A snv 4.1E-06 0.010 1.000 1 1996 1996