Source: UNIPROT

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: rs541818422
rs541818422
CHD7
1.000 0.080 8 60856135 missense variant T/A;C;G snv 4.2E-06; 4.2E-06; 8.4E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 13 2004 2015