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: rs1565572949
rs1565572949
DHH ; LOC105369759
4 0.851 0.160 12 49090039 frameshift variant G/- del 0.700 1.000 1 2018 2018
dbSNP: rs1565573786
rs1565573786
DHH ; LOC105369759
6 0.807 0.160 12 49091165 stop gained G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs119481077
rs119481077
HSD17B3
3 0.882 0.240 9 96254907 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs121434245
rs121434245
SRD5A2
3 0.882 0.200 2 31580737 missense variant A/T snv 0.010 1.000 1 2006 2006