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: rs373301291
rs373301291
CHD7
1.000 0.080 8 60836243 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 4.0E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 15 2004 2015