Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0