Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1026300967
rs1026300967
1.000 1 156868246 missense variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 3 2012 2017
dbSNP: rs1553263326
rs1553263326
1.000 1 156881446 intron variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 3 2012 2017