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rs281875319

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281875319(A;A)
Make rs281875319(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position81934380
GenePYCR1
is asnp
is mentioned by
dbSNPrs281875319
ebirs281875319
HLIrs281875319
Exacrs281875319
Varsomers281875319
Maprs281875319
PheGenIrs281875319
hapmaprs281875319
1000 genomesrs281875319
hgdprs281875319
ensemblrs281875319
gopubmedrs281875319
geneviewrs281875319
scholarrs281875319
googlers281875319
pharmgkbrs281875319
gwascentralrs281875319
openSNPrs281875319
23andMers281875319
23andMe allrs281875319
SNP Nexus

SNPshotrs281875319
SNPdbers281875319
MSV3drs281875319
GWAS Ctlgrs281875319
Max Magnitude0
ClinVar
Risk rs281875319(A;A)
Alt rs281875319(A;A)
Reference rs281875319(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.79892256C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022744.24, RCV000059739.1,


[PMID 22052856] Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.