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: rs118204437
rs118204437
GALNS ; LOC107987238
3 0.882 0.120 16 88824853 missense variant G/A snv 9.2E-05 4.9E-05 0.710 1.000 3 1996 2013
dbSNP: rs118204438
rs118204438
GALNS
3 0.882 0.120 16 88841077 missense variant T/A snv 4.0E-05 7.7E-05 0.700 1.000 4 1998 2014
dbSNP: rs144067930
rs144067930
GALNS
2 0.925 0.120 16 88835261 missense variant A/C snv 2.2E-04 1.7E-04 0.700 1.000 4 1998 2014
dbSNP: rs761385192
rs761385192
GALNS
2 0.925 0.120 16 88835743 missense variant C/T snv 2.8E-05 3.5E-05 0.700 1.000 4 1997 2014
dbSNP: rs118204443
rs118204443
GALNS
3 0.882 0.120 16 88832099 missense variant C/A snv 4.4E-05 8.4E-05 0.700 1.000 3 1997 2014
dbSNP: rs772656696
rs772656696
GALNS
2 0.925 0.120 16 88837690 frameshift variant G/- del 2.1E-05 0.700 1.000 2 2014 2014
dbSNP: rs1165218506
rs1165218506
GALNS
1 1.000 0.120 16 88832103 splice acceptor variant T/C;G snv 0.700 1.000 1 2004 2004
dbSNP: rs1131692042
rs1131692042
RPL10 ; SNORA70
3 0.925 0.120 X 154399803 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2007 2007