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: rs200635937
rs200635937
0.925 0.040 1 168104855 missense variant A/T snv 2.9E-03 8.0E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs200635937
rs200635937
0.925 0.040 1 168104855 missense variant A/T snv 2.9E-03 8.0E-04
Pituitary stalk interruption syndrome
0.700 0
dbSNP: rs200635937
rs200635937
0.925 0.040 1 168104855 missense variant A/T snv 2.9E-03 8.0E-04
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
0.700 0