rs397515568, IFT122

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.
CRANIOECTODERMAL DYSPLASIA 1
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
12 1.000 0.120 3 129479917 missense variant G/A snv 7.0E-06 0.700 1.000 5 2010 2018