rs281875318

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs281875318(A;A)

Make rs281875318(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81934354

Gene

PYCR1

is a	snp
is	mentioned by
dbSNP	rs281875318
dbSNP (classic)	rs281875318
ClinGen	rs281875318
ebi	rs281875318
HLI	rs281875318
Exac	rs281875318
Gnomad	rs281875318
Varsome	rs281875318
LitVar	rs281875318
Map	rs281875318
PheGenI	rs281875318
Biobank	rs281875318
1000 genomes	rs281875318
hgdp	rs281875318
ensembl	rs281875318
geneview	rs281875318
scholar	rs281875318
google	rs281875318
pharmgkb	rs281875318
gwascentral	rs281875318
openSNP	rs281875318
23andMe	rs281875318
SNPshot	rs281875318
SNPdbe	rs281875318
MSV3d	rs281875318
GWAS Ctlg	rs281875318

Max Magnitude

0

ClinVar
Risk	rs281875318(A;A)
Alt	rs281875318(A;A)
Reference	Rs281875318(G;G)
Significance	Pathogenic
Disease	Autosomal recessive cutis laxa type 3B not provided
Variation	info
Gene	PYCR1
CLNDBN	Autosomal recessive cutis laxa type 3B not provided
Reversed	1
HGVS	NC_000017.10:g.79892230C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000022742.27, RCV000059740.1,

[PMID 19648921] Mutations in PYCR1 cause cutis laxa with progeroid features.