rs139751598, PYCR1

N. diseases: 13
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 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.800 1.000 2 2009 2009
Adducted thumb
CUI: C3554617
Disease: Adducted thumb
5 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
Blue sclera
CUI: C0542514
Disease: Blue sclera
13 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
21 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
Joint hyperflexibility
CUI: C3553764
Disease: Joint hyperflexibility
12 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
Postnatal growth retardation
CUI: C1859778
Disease: Postnatal growth retardation
11 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
Protruding ear
CUI: C1855285
Disease: Protruding ear
6 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
Thin skin
CUI: C0423757
Disease: Thin skin
4 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
Triangular face
CUI: C1835884
Disease: Triangular face
16 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0