STIM1, stromal interaction molecule 1, 6786

N. diseases: 247; N. variants: 23
Disease: Short stature ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142239530
rs142239530 		0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0