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: rs121909352
rs121909352
GDF6
0.882 0.120 8 96145185 missense variant G/T snv 2.0E-03 2.0E-03
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.800 1.000 2 2008 2009
dbSNP: rs121909352
rs121909352
GDF6
0.882 0.120 8 96145185 missense variant G/T snv 2.0E-03 2.0E-03
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.800 1.000 2 2009 2014
dbSNP: rs121909352
rs121909352
GDF6
0.882 0.120 8 96145185 missense variant G/T snv 2.0E-03 2.0E-03
CUI: C3715164
Disease: LEBER CONGENITAL AMAUROSIS 17
LEBER CONGENITAL AMAUROSIS 17 		0.800 1.000 1 2013 2013