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rs121918374

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918374(A;A)
Make rs121918374(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position81934326
GenePYCR1
is asnp
is mentioned by
dbSNPrs121918374
ebirs121918374
HLIrs121918374
Exacrs121918374
Varsomers121918374
Maprs121918374
PheGenIrs121918374
hapmaprs121918374
1000 genomesrs121918374
hgdprs121918374
ensemblrs121918374
gopubmedrs121918374
geneviewrs121918374
scholarrs121918374
googlers121918374
pharmgkbrs121918374
gwascentralrs121918374
openSNPrs121918374
23andMers121918374
23andMe allrs121918374
SNP Nexus

SNPshotrs121918374
SNPdbers121918374
MSV3drs121918374
GWAS Ctlgrs121918374
Max Magnitude0
OMIM179035
Desc
Variant0001
Relatedalso
OMIM179035
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918374(A;A)
Alt rs121918374(A;A)
Reference rs121918374(G;G)
Significance Pathogenic
Disease Autosomal recessive cutis laxa type 2B
Variation info
Gene PYCR1
CLNDBN Autosomal recessive cutis laxa type 2B
Reversed 1
HGVS NC_000017.10:g.79892202C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014078.24,