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: rs1555741826
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0