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: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs869025191
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs869312687
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0