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
0.827 0.240 12 112450362 missense variant A/C;G;T snv
Abnormality of cardiovascular system morphology
0.700 0
dbSNP: rs121918461
rs121918461
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs121918461
rs121918461
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
0.700 0
dbSNP: rs121918461
rs121918461
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C1853638
Disease: Broad neck
Broad neck
0.700 0
dbSNP: rs121918461
rs121918461
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C0221217
Disease: Neck webbing
Neck webbing
0.700 0
dbSNP: rs121918461
rs121918461
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.720 1.000 26 2001 2018
dbSNP: rs121918461
rs121918461
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.800 1.000 22 2001 2016
dbSNP: rs121918461
rs121918461
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 0 2001 2017