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: rs121434343
rs121434343
CHD7
0.925 0.080 8 60853047 missense variant G/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.800 1.000 15 2004 2015
dbSNP: rs121434343
rs121434343
CHD7
0.925 0.080 8 60853047 missense variant G/A snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2008 2014