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rs137854562

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854562(C;T)
Make rs137854562(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position31235623
GeneNF1
is asnp
is mentioned by
dbSNPrs137854562
ebirs137854562
HLIrs137854562
Exacrs137854562
Varsomers137854562
Maprs137854562
PheGenIrs137854562
hapmaprs137854562
1000 genomesrs137854562
hgdprs137854562
ensemblrs137854562
gopubmedrs137854562
geneviewrs137854562
scholarrs137854562
googlers137854562
pharmgkbrs137854562
gwascentralrs137854562
openSNPrs137854562
23andMers137854562
23andMe allrs137854562
SNP Nexus

SNPshotrs137854562
SNPdbers137854562
MSV3drs137854562
GWAS Ctlgrs137854562
Max Magnitude0
OMIM613113
Desc
Variant0031
Relatedalso
ClinVar
Risk rs137854562(T;T)
Alt rs137854562(T;T)
Reference rs137854562(C;C)
Significance Pathogenic
Disease Neurofibromatosis Hereditary cancer-predisposing syndrome
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000017.10:g.29562641C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000390.5, RCV000129869.2,