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rs137854561

From SNPedia

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


Make rs137854561(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position31336750
GeneNF1
is asnp
is mentioned by
dbSNPrs137854561
dbSNP (classic)rs137854561
ClinGenrs137854561
ebirs137854561
HLIrs137854561
Exacrs137854561
Gnomadrs137854561
Varsomers137854561
LitVarrs137854561
Maprs137854561
PheGenIrs137854561
Biobankrs137854561
1000 genomesrs137854561
hgdprs137854561
ensemblrs137854561
geneviewrs137854561
scholarrs137854561
googlers137854561
pharmgkbrs137854561
gwascentralrs137854561
openSNPrs137854561
23andMers137854561
SNPshotrs137854561
SNPdbers137854561
MSV3drs137854561
GWAS Ctlgrs137854561
Max Magnitude5.5
OMIM613113
Desc
Variant0028
Relatedalso
ClinVar
Risk rs137854561(C;C)
Alt rs137854561(C;C)
Reference Rs137854561(T;T)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, familial spinal
Reversed 0
HGVS NC_000017.10:g.29663768T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000386.2,