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rs121909256

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909256(C;C)
Make rs121909256(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47447927
GeneRAPSN
is asnp
is mentioned by
dbSNPrs121909256
ebirs121909256
HLIrs121909256
Exacrs121909256
Varsomers121909256
Maprs121909256
PheGenIrs121909256
hapmaprs121909256
1000 genomesrs121909256
hgdprs121909256
ensemblrs121909256
gopubmedrs121909256
geneviewrs121909256
scholarrs121909256
googlers121909256
pharmgkbrs121909256
gwascentralrs121909256
openSNPrs121909256
23andMers121909256
23andMe allrs121909256
SNP Nexus

SNPshotrs121909256
SNPdbers121909256
MSV3drs121909256
GWAS Ctlgrs121909256
Max Magnitude0
OMIM601592
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121909256(C;C)
Alt rs121909256(C;C)
Reference rs121909256(T;T)
Significance Pathogenic
Disease Pena-Shokeir syndrome type I
Variation info
Gene RAPSN
CLNDBN Pena-Shokeir syndrome type I
Reversed 1
HGVS NC_000011.9:g.47469479A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008524.3,