PYCR1, pyrroline-5-carboxylate reductase 1, 5831

N. diseases: 126; N. variants: 12
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918374
rs121918374 		0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 2 2009 2009
dbSNP: rs121918375
rs121918375 		0.925 0.080 17 81934670 missense variant C/A;T snv 1.1E-05
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 2 2009 2009
dbSNP: rs121918376
rs121918376 		0.882 0.080 17 81935111 missense variant G/A;C snv 5.7E-05; 8.1E-06
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 2 2009 2009
dbSNP: rs121918377
rs121918377 		0.925 0.080 17 81935110 missense variant C/G;T snv 1.2E-05
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 2 2009 2009
dbSNP: rs121918378
rs121918378 		1.000 17 81934371 missense variant C/T snv 8.1E-06 6.3E-05
CUI: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.800 1.000 2 2009 2011
dbSNP: rs139751598
rs139751598 		0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 2 2009 2009
dbSNP: rs281875318
rs281875318 		1.000 17 81934354 missense variant C/T snv 2.4E-05 7.0E-05
CUI: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.800 1.000 2 2009 2011
dbSNP: rs281875319
rs281875319 		1.000 17 81934380 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.800 1.000 2 2009 2011
dbSNP: rs121918374
rs121918374 		0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2009 2013
dbSNP: rs121918374
rs121918374 		0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2009 2013
dbSNP: rs121918374
rs121918374 		0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 4 2009 2015
dbSNP: rs144346996
rs144346996 		0.925 0.080 17 81934652 splice donor variant C/G snv 2.9E-05 7.7E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2009 2013
dbSNP: rs144346996
rs144346996 		0.925 0.080 17 81934652 splice donor variant C/G snv 2.9E-05 7.7E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2009 2013
dbSNP: rs755867227
rs755867227 		1.000 17 81936122 splice donor variant C/T snv 1.6E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2009 2013
dbSNP: rs755867227
rs755867227 		1.000 17 81936122 splice donor variant C/T snv 1.6E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2009 2013
dbSNP: rs144346996
rs144346996 		0.925 0.080 17 81934652 splice donor variant C/G snv 2.9E-05 7.7E-05
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2009 2009
dbSNP: rs121918377
rs121918377 		0.925 0.080 17 81935110 missense variant C/G;T snv 1.2E-05
CUI: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.700 0
dbSNP: rs139751598
rs139751598 		0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs139751598
rs139751598 		0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 0
dbSNP: rs139751598
rs139751598 		0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C1855285
Disease: Protruding ear
Protruding ear 		0.700 0
dbSNP: rs139751598
rs139751598 		0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C0542514
Disease: Blue sclera
Blue sclera 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs139751598
rs139751598 		0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		Musculoskeletal Diseases 0.700 0
dbSNP: rs139751598
rs139751598 		0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		0.700 0
dbSNP: rs139751598
rs139751598 		0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs139751598
rs139751598 		0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0