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: rs121918461
rs121918461
0.801 0.250 12 112450362 missense variant A/C,G,T snp
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.810 1.000 12 2001 2013
dbSNP: rs121918461
rs121918461
0.801 0.250 12 112450362 missense variant A/C,G,T snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.810 1.000 1 2001 2009
dbSNP: rs121918461
rs121918461
0.801 0.250 12 112450362 missense variant A/C,G,T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs121918461
rs121918461
0.801 0.250 12 112450362 missense variant A/C,G,T snp
Abnormality of cardiovascular system morphology
0.700 1 2015 2015