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: rs1557962794
rs1557962794
RIT1
0.882 0.160 1 155910693 missense variant T/G snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		0.700 1.000 1 2016 2016
dbSNP: rs1557962794
rs1557962794
RIT1
0.882 0.160 1 155910693 missense variant T/G snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs1557962794
rs1557962794
RIT1
0.882 0.160 1 155910693 missense variant T/G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs1557962794
rs1557962794
RIT1
0.882 0.160 1 155910693 missense variant T/G snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0