rs137853027, DYNC2H1

N. diseases: 15
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.
Saldino-Noonan Syndrome
CUI: C0036069
Disease: Saldino-Noonan Syndrome
108 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.800 1.000 4 2009 2013
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
116 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 1.000 4 2009 2018
Aplasia/Hypoplasia involving the pelvis
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
13 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
Bell-shaped thorax
CUI: C1865186
Disease: Bell-shaped thorax
7 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
Bowing of the long bones
CUI: C1855340
Disease: Bowing of the long bones
5 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
Femoral bowing
CUI: C1859461
Disease: Femoral bowing
13 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
Finger symphalangism
CUI: C4021399
Disease: Finger symphalangism
1 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
Hip joint varus deformity - observation
CUI: C0239138
Disease: Hip joint varus deformity - observation
2 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
Metaphyseal widening
CUI: C1849039
Disease: Metaphyseal widening
3 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
Short long bone
CUI: C1854912
Disease: Short long bone
19 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
Short ribs
CUI: C0426817
Disease: Short ribs
27 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
Thoracic hypoplasia
CUI: C1837482
Disease: Thoracic hypoplasia
16 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0