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: rs786205271
rs786205271
SCN5A
1.000 0.080 3 38551159 missense variant G/A;C snv 4.0E-06
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.700 1.000 1 2020 2020