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: rs587783451
rs587783451
CHD7
1.000 0.080 8 60853012 missense variant A/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.800 1.000 15 2004 2015