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: rs1131691804
rs1131691804
0.878 0.143 15 48463123 missense variant G/A snp
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia
0.700 1 2015 2015
dbSNP: rs1131691804
rs1131691804
0.878 0.143 15 48463123 missense variant G/A snp
CUI: C0024433
Disease: Macrostomia
Macrostomia
0.700 1 2015 2015
dbSNP: rs1131691804
rs1131691804
0.878 0.143 15 48463123 missense variant G/A snp
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
0.700 1 2015 2015
dbSNP: rs1131691804
rs1131691804
0.878 0.143 15 48463123 missense variant G/A snp
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly
0.700 1 2015 2015
dbSNP: rs1131691804
rs1131691804
0.878 0.143 15 48463123 missense variant G/A snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015