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rs137854559

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854559(C;T)
Make rs137854559(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position31249030
GeneNF1
is asnp
is mentioned by
dbSNPrs137854559
ebirs137854559
HLIrs137854559
Exacrs137854559
Varsomers137854559
Maprs137854559
PheGenIrs137854559
hapmaprs137854559
1000 genomesrs137854559
hgdprs137854559
ensemblrs137854559
gopubmedrs137854559
geneviewrs137854559
scholarrs137854559
googlers137854559
pharmgkbrs137854559
gwascentralrs137854559
openSNPrs137854559
23andMers137854559
23andMe allrs137854559
SNP Nexus

SNPshotrs137854559
SNPdbers137854559
MSV3drs137854559
GWAS Ctlgrs137854559
Max Magnitude0
OMIM613113
Desc
Variant0026
Relatedalso
ClinVar
Risk rs137854559(T;T)
Alt rs137854559(T;T)
Reference rs137854559(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29576048C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000385.5,