rs886041239, SMC3

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormality of hair pigmentation
CUI: C4024172
Disease: Abnormality of hair pigmentation
2 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0
Hair whorls
CUI: C1185616
Disease: Hair whorls
5 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0
Hernia, Inguinal
CUI: C0019294
Disease: Hernia, Inguinal
21 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0
Megacolon
CUI: C0025160
Disease: Megacolon
9 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0
Mild short stature
CUI: C3150077
Disease: Mild short stature
8 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0
Round face
CUI: C0239479
Disease: Round face
3 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0