rs771487311, DYNC2H1

N. diseases: 5
Source: CLINVAR ×
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.
Disproportionate tall stature
CUI: C1836996
Disease: Disproportionate tall stature
17 0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05 0.700 1.000 1 2016 2016
Saldino-Noonan Syndrome
CUI: C0036069
Disease: Saldino-Noonan Syndrome
94 0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05 0.700 1.000 1 2016 2016
Short ribs
CUI: C0426817
Disease: Short ribs
27 0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05 0.700 1.000 1 2016 2016
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
115 0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05 0.700 0
Majewski Syndrome
CUI: C0024507
Disease: Majewski Syndrome
31 0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05 0.700 0