Disease: Large head (disorder) ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs180177035
rs180177035 		0.752 0.280 7 140801502 missense variant T/C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 2 2006 2006
dbSNP: rs121913348
rs121913348 		0.763 0.480 7 140781617 missense variant C/A;G;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2008 2008
dbSNP: rs121913355
rs121913355 		0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs397507483
rs397507483 		0.790 0.400 7 140753348 missense variant C/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0