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rs137854558

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854558(C;C)
Make rs137854558(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position31214581
GeneNF1
is asnp
is mentioned by
dbSNPrs137854558
ebirs137854558
HLIrs137854558
Exacrs137854558
Varsomers137854558
Maprs137854558
PheGenIrs137854558
hapmaprs137854558
1000 genomesrs137854558
hgdprs137854558
ensemblrs137854558
gopubmedrs137854558
geneviewrs137854558
scholarrs137854558
googlers137854558
pharmgkbrs137854558
gwascentralrs137854558
openSNPrs137854558
23andMers137854558
23andMe allrs137854558
SNP Nexus

SNPshotrs137854558
SNPdbers137854558
MSV3drs137854558
GWAS Ctlgrs137854558
Max Magnitude0
OMIM613113
Desc
Variant0024
Relatedalso
ClinVar
Risk rs137854558(C;C)
Alt rs137854558(C;C)
Reference rs137854558(T;T)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29541599T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000383.6,