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rs121918377

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918377(A;A)
Make rs121918377(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position81935110
GenePYCR1
is asnp
is mentioned by
dbSNPrs121918377
ebirs121918377
HLIrs121918377
Exacrs121918377
Varsomers121918377
Maprs121918377
PheGenIrs121918377
hapmaprs121918377
1000 genomesrs121918377
hgdprs121918377
ensemblrs121918377
gopubmedrs121918377
geneviewrs121918377
scholarrs121918377
googlers121918377
pharmgkbrs121918377
gwascentralrs121918377
openSNPrs121918377
23andMers121918377
23andMe allrs121918377
SNP Nexus

SNPshotrs121918377
SNPdbers121918377
MSV3drs121918377
GWAS Ctlgrs121918377
GMAF0.0009183
Max Magnitude0
OMIM179035
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918377(A;A)
Alt rs121918377(A;A)
Reference rs121918377(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.79892986C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014084.24,