rs886039812, DYNC2H1

N. diseases: 7
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.
Asphyxiating Thoracic Dystrophy 1
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
11 0.882 0.160 11 103155395 missense variant T/G snv 0.700 0
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 0.882 0.160 11 103155395 missense variant T/G snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.160 11 103155395 missense variant T/G snv 0.700 0
Hypoplasia of the odontoid process
CUI: C1846439
Disease: Hypoplasia of the odontoid process
1 0.882 0.160 11 103155395 missense variant T/G snv 0.700 0
J-shaped sella turcica
CUI: C1854718
Disease: J-shaped sella turcica
1 0.882 0.160 11 103155395 missense variant T/G snv 0.700 0
Keratosis Follicularis
CUI: C0022595
Disease: Keratosis Follicularis
21 0.882 0.160 11 103155395 missense variant T/G snv 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 0.882 0.160 11 103155395 missense variant T/G snv 0.700 0