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: rs121913115
rs121913115
1.000 0.107 4 1801928 missense variant A/G snp
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
0.700 2 1993 2007
dbSNP: rs121913115
rs121913115
1.000 0.107 4 1801928 missense variant A/G snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015