rs199952377, WDR35

N. diseases: 4
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.
Cranioectodermal dysplasia
CUI: C4551571
Disease: Cranioectodermal dysplasia
22 0.851 0.160 2 19941796 stop gained A/C snv 1.6E-04 1.9E-04 0.700 1.000 3 2013 2017
CRANIOECTODERMAL DYSPLASIA 2
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
17 0.851 0.160 2 19941796 stop gained A/C snv 1.6E-04 1.9E-04 0.700 1.000 3 2013 2017
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
13 0.851 0.160 2 19941796 stop gained A/C snv 1.6E-04 1.9E-04 0.700 1.000 3 2013 2017
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
116 0.851 0.160 2 19941796 stop gained A/C snv 1.6E-04 1.9E-04 0.700 0