rs121918376, PYCR1

N. diseases: 3
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 0.882 0.080 17 81935111 missense variant G/A;C snv 5.7E-05; 8.1E-06 0.800 1.000 2 2009 2009
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
21 0.882 0.080 17 81935111 missense variant G/A;C snv 5.7E-05; 8.1E-06 0.020 1.000 2 2017 2017
Cutis laxa, autosomal recessive
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
1 0.882 0.080 17 81935111 missense variant G/A;C snv 5.7E-05; 8.1E-06 0.010 1.000 1 2017 2017