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rs137854563

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854563(C;C)
Make rs137854563(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position31201044
GeneNF1
is asnp
is mentioned by
dbSNPrs137854563
ebirs137854563
HLIrs137854563
Exacrs137854563
Varsomers137854563
Maprs137854563
PheGenIrs137854563
hapmaprs137854563
1000 genomesrs137854563
hgdprs137854563
ensemblrs137854563
gopubmedrs137854563
geneviewrs137854563
scholarrs137854563
googlers137854563
pharmgkbrs137854563
gwascentralrs137854563
openSNPrs137854563
23andMers137854563
23andMe allrs137854563
SNP Nexus

SNPshotrs137854563
SNPdbers137854563
MSV3drs137854563
GWAS Ctlgrs137854563
Max Magnitude0
OMIM613113
Desc
Variant0038
Relatedalso
ClinVar
Risk rs137854563(C,G;C,G)
Alt rs137854563(C,G;C,G)
Reference rs137854563(T;T)
Significance Pathogenic
Disease Neurofibromatosis Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000017.10:g.29528062T>C; NC_000017.10:g.29528062T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000398.4, RCV000000399.4, RCV000216480.1,