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rs121918376

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918376(C;G)
Make rs121918376(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position81935111
GenePYCR1
is asnp
is mentioned by
dbSNPrs121918376
ebirs121918376
HLIrs121918376
Exacrs121918376
Varsomers121918376
Maprs121918376
PheGenIrs121918376
hapmaprs121918376
1000 genomesrs121918376
hgdprs121918376
ensemblrs121918376
gopubmedrs121918376
geneviewrs121918376
scholarrs121918376
googlers121918376
pharmgkbrs121918376
gwascentralrs121918376
openSNPrs121918376
23andMers121918376
23andMe allrs121918376
SNP Nexus

SNPshotrs121918376
SNPdbers121918376
MSV3drs121918376
GWAS Ctlgrs121918376
GMAF0.0
Max Magnitude0
OMIM179035
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918376(G,T;G,T)
Alt rs121918376(G,T;G,T)
Reference rs121918376(C;C)
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.79892987G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014083.24,