rs121918375, PYCR1

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.
Cutis Laxa, Autosomal Recessive, Type IIB
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
6 0.925 0.080 17 81934670 missense variant C/A;T snv 1.1E-05 0.800 1.000 2 2009 2009
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
21 0.925 0.080 17 81934670 missense variant C/A;T snv 1.1E-05 0.010 1.000 1 2017 2017