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: rs121907953
rs121907953
HEXA
5 0.851 0.160 15 72353106 missense variant G/A snv 2.0E-05 0.710 1.000 1 2017 2017
dbSNP: rs121907971
rs121907971
HEXA
3 0.882 0.120 15 72350551 missense variant C/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs28941770
rs28941770
HEXA
2 0.925 0.120 15 72353105 missense variant C/A;G;T snv 4.8E-05 0.700 0
dbSNP: rs797044434
rs797044434
HEXA
1 1.000 0.120 15 72349101 inframe deletion TCC/- delins 0.700 0