PYCR1, pyrroline-5-carboxylate reductase 1, 5831

N. diseases: 126; N. variants: 12
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB ×
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: 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: 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: 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: rs758601634
rs758601634 		1.000 17 81935121 frameshift variant G/- delins 3.3E-05 7.0E-06
CUI: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.700 0