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: rs1565307564
rs1565307564
MYRF ; TMEM258
0.807 0.120 11 61783599 missense variant A/G snv
CUI: C0036400
Disease: Scimitar Syndrome
Scimitar Syndrome 		0.700 0