Source: BEFREE ×
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 0.830 1.000 3 1988 2016
dbSNP: rs28941770
rs28941770
HEXA
1 0.925 0.120 15 72353105 missense variant C/A;G;T snv 4.8E-05 0.820 1.000 2 1988 2016
dbSNP: rs121907966
rs121907966
HEXA
1 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.810 1.000 1 1988 2016
dbSNP: rs121907971
rs121907971
HEXA
2 0.882 0.120 15 72350551 missense variant C/G snv 4.0E-06 7.0E-06 0.810 1.000 1 1988 2016
dbSNP: rs121907981
rs121907981
HEXA
2 0.882 0.120 15 72345550 missense variant C/G snv 1.2E-05 7.0E-06 0.710 1.000 1 1988 2016
dbSNP: rs387906309
rs387906309
HEXA
1 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.710 1.000 1 1988 2019
dbSNP: rs121907970
rs121907970
HEXA
1 0.925 0.120 15 72350584 missense variant G/A snv 1.5E-03 1.9E-03 0.020 1.000 2 1992 1993
dbSNP: rs1057519021
rs1057519021
GM2A
2 0.925 0.120 5 151267341 stop gained G/T snv 0.010 1.000 1 2016 2016
dbSNP: rs10805890
rs10805890
HEXB
4 0.851 0.120 5 74697056 missense variant A/G snv 0.16 0.13 0.010 1.000 1 2006 2006
dbSNP: rs11637611
rs11637611
PARP6
3 0.851 0.160 15 72259371 intron variant C/T snv 0.63 0.010 1.000 1 2011 2011
dbSNP: rs12752888
rs12752888
LINC02784
3 0.851 0.160 1 54527266 downstream gene variant T/C snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs28940279
rs28940279
ASPA ; SPATA22
3 0.851 0.120 17 3499000 missense variant A/C snv 4.3E-04 2.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs750904605
rs750904605
OGA
1 1.000 0.120 10 101803966 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs755973971
rs755973971
HEXA
3 0.882 0.120 15 72346661 missense variant T/A;C;G snv 7.6E-05; 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs76763715
rs76763715
GBA
27 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs7840202
rs7840202
UBR5
3 0.851 0.160 8 102296172 intron variant A/C snv 0.21 0.010 1.000 1 2011 2011