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: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs397517150
rs397517150
SOS1
0.827 0.160 2 39023118 missense variant A/C;G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs727505381
rs727505381
SOS1
0.925 0.160 2 39013523 missense variant A/G snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0