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: rs760187215
rs760187215
MYH7
1.000 0.040 14 23431859 missense variant C/T snv 8.0E-06
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		0.700 0