Source: CLINVAR

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: rs1057516048
rs1057516048
NSD1
0.925 0.200 5 177283796 missense variant A/T snv
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.700 1.000 1 2016 2016
dbSNP: rs587784177
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.700 0