Have questions? Visit https://www.reddit.com/r/SNPedia

rs281875318

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281875318(A;A)
Make rs281875318(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position81934354
GenePYCR1
is asnp
is mentioned by
dbSNPrs281875318
ebirs281875318
HLIrs281875318
Exacrs281875318
Varsomers281875318
Maprs281875318
PheGenIrs281875318
hapmaprs281875318
1000 genomesrs281875318
hgdprs281875318
ensemblrs281875318
gopubmedrs281875318
geneviewrs281875318
scholarrs281875318
googlers281875318
pharmgkbrs281875318
gwascentralrs281875318
openSNPrs281875318
23andMers281875318
23andMe allrs281875318
SNP Nexus

SNPshotrs281875318
SNPdbers281875318
MSV3drs281875318
GWAS Ctlgrs281875318
Max Magnitude0
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 (variants)
CLNACC RCV000022742.27, RCV000059740.1,


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