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: rs397517148
rs397517148
0.846 0.179 2 39023128 missense variant C/T snp
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 3 2007 2013
dbSNP: rs397517148
rs397517148
0.846 0.179 2 39023128 missense variant C/T snp
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
0.700 1 2015 2015
dbSNP: rs397517148
rs397517148
0.846 0.179 2 39023128 missense variant C/T snp
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 1 2015 2015
dbSNP: rs397517148
rs397517148
0.846 0.179 2 39023128 missense variant C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs397517148
rs397517148
0.846 0.179 2 39023128 missense variant C/T snp
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
0.700 1 2015 2015