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rs121918378

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918378(A;A)
Make rs121918378(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position81934371
GenePYCR1
is asnp
is mentioned by
dbSNPrs121918378
ebirs121918378
HLIrs121918378
Exacrs121918378
Varsomers121918378
Maprs121918378
PheGenIrs121918378
hapmaprs121918378
1000 genomesrs121918378
hgdprs121918378
ensemblrs121918378
gopubmedrs121918378
geneviewrs121918378
scholarrs121918378
googlers121918378
pharmgkbrs121918378
gwascentralrs121918378
openSNPrs121918378
23andMers121918378
23andMe allrs121918378
SNP Nexus

SNPshotrs121918378
SNPdbers121918378
MSV3drs121918378
GWAS Ctlgrs121918378
Max Magnitude0
OMIM179035
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918378(A;A)
Alt rs121918378(A;A)
Reference rs121918378(G;G)
Significance Pathogenic
Disease Autosomal recessive cutis laxa type 3B
Variation info
Gene PYCR1
CLNDBN Autosomal recessive cutis laxa type 3B
Reversed 1
HGVS NC_000017.10:g.79892247C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014085.24,