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: rs1057521077
rs1057521077
CHD7
1.000 0.080 8 60822604 missense variant T/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0