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: rs1165711448
rs1165711448
CHD7
1.000 0.080 8 60821842 missense variant C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 13 2004 2015