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: rs778037798
rs778037798
3 73388079 non coding transcript exon variant A/G snv 4.9E-05 3.5E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0