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: rs267607062
rs267607062
SLC35D1
1 1.000 0.080 1 67053821 missense variant T/C;G snv 0.720 1.000 2 2009 2019
dbSNP: rs137853111
rs137853111
SLC35D1
1 1.000 0.080 1 67009112 stop gained C/T snv 8.2E-06 1.4E-05 0.700 0
dbSNP: rs267607063
rs267607063
SLC35D1
1 1.000 0.080 1 67052776 stop gained G/A;C snv 4.0E-06; 8.0E-06 0.700 0