Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909257

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909257(C;T)
Make rs121909257(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47442780
GeneRAPSN
is asnp
is mentioned by
dbSNPrs121909257
ebirs121909257
HLIrs121909257
Exacrs121909257
Varsomers121909257
Maprs121909257
PheGenIrs121909257
hapmaprs121909257
1000 genomesrs121909257
hgdprs121909257
ensemblrs121909257
gopubmedrs121909257
geneviewrs121909257
scholarrs121909257
googlers121909257
pharmgkbrs121909257
gwascentralrs121909257
openSNPrs121909257
23andMers121909257
23andMe allrs121909257
SNP Nexus

SNPshotrs121909257
SNPdbers121909257
MSV3drs121909257
GWAS Ctlgrs121909257
Max Magnitude0
OMIM601592
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121909257(G,T;G,T)
Alt rs121909257(G,T;G,T)
Reference rs121909257(C;C)
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.47464332G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008525.4,