rs121918374, PYCR1

N. diseases: 4
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 81934326 missense variant C/G;T snv 7.7E-05 0.800 1.000 2 2009 2009
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
21 0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05 0.700 1.000 4 2009 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05 0.700 1.000 4 2009 2013
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05 0.700 1.000 4 2009 2013