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rs137854551

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 5.5 Neurofibromatosis type 1
(C;C) 0 common in clinvar


Make rs137854551(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position31337430
GeneNF1
is asnp
is mentioned by
dbSNPrs137854551
dbSNP (classic)rs137854551
ClinGenrs137854551
ebirs137854551
HLIrs137854551
Exacrs137854551
Gnomadrs137854551
Varsomers137854551
LitVarrs137854551
Maprs137854551
PheGenIrs137854551
Biobankrs137854551
1000 genomesrs137854551
hgdprs137854551
ensemblrs137854551
geneviewrs137854551
scholarrs137854551
googlers137854551
pharmgkbrs137854551
gwascentralrs137854551
openSNPrs137854551
23andMers137854551
SNPshotrs137854551
SNPdbers137854551
MSV3drs137854551
GWAS Ctlgrs137854551
Max Magnitude5.5
OMIM613113
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137854551(A;A)
Alt rs137854551(A;A)
Reference Rs137854551(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29664448C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000367.3,