rs1135402743, SMCHD1

N. diseases: 1
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.
Arhinia, choanal atresia, and microphthalmia
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
18 1.000 0.160 18 2700613 missense variant G/C snv 0.800 1.000 1 2017 2017