Source: ALL

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: rs10108684
rs10108684
8 122960828 intron variant G/A snv 0.11
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement
0.700 1.000 1 2012 2012
dbSNP: rs11779459
rs11779459
8 122968311 intron variant C/T snv 0.40
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs1040124120
rs1040124120
1.000 0.160 8 122953350 missense variant C/G;T snv 1.6E-05
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.010 1.000 1 2018 2018
dbSNP: rs1040124120
rs1040124120
1.000 0.160 8 122953350 missense variant C/G;T snv 1.6E-05
CUI: C0410719
Disease: Deformity of bone
Deformity of bone
0.010 1.000 1 2018 2018
dbSNP: rs1201911038
rs1201911038
8 122953143 missense variant G/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2013 2013
dbSNP: rs140461950
rs140461950
1.000 0.080 8 122951616 missense variant G/A;T snv 8.8E-05 3.5E-05
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.010 1.000 1 2012 2012