rs369091875, DCHS1

N. diseases: 2
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.
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.925 0.240 11 6633485 missense variant C/G;T snv 1.1E-03 0.700 0
VAN MALDERGEM SYNDROME 1
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
4 0.925 0.240 11 6633485 missense variant C/G;T snv 1.1E-03 0.700 0