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: rs137853883
rs137853883
0.882 0.120 17 41819307 frameshift variant C/-;CC delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0