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rs121918375

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918375(G;T)
Make rs121918375(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position81934670
GenePYCR1
is asnp
is mentioned by
dbSNPrs121918375
ebirs121918375
HLIrs121918375
Exacrs121918375
Varsomers121918375
Maprs121918375
PheGenIrs121918375
hapmaprs121918375
1000 genomesrs121918375
hgdprs121918375
ensemblrs121918375
gopubmedrs121918375
geneviewrs121918375
scholarrs121918375
googlers121918375
pharmgkbrs121918375
gwascentralrs121918375
openSNPrs121918375
23andMers121918375
23andMe allrs121918375
SNP Nexus

SNPshotrs121918375
SNPdbers121918375
MSV3drs121918375
GWAS Ctlgrs121918375
Max Magnitude0
OMIM179035
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918375(A,T;A,T)
Alt rs121918375(A,T;A,T)
Reference rs121918375(G;G)
Significance Pathogenic
Disease Autosomal recessive cutis laxa type 2B not provided
Variation info
Gene PYCR1
CLNDBN Autosomal recessive cutis laxa type 2B not provided
Reversed 1
HGVS NC_000017.10:g.79892546C>A; NC_000017.10:g.79892546C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000014079.24, RCV000059738.1,


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