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rs137854555

From SNPedia

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


Make rs137854555(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position31261810
GeneNF1
is asnp
is mentioned by
dbSNPrs137854555
dbSNP (classic)rs137854555
ClinGenrs137854555
ebirs137854555
HLIrs137854555
Exacrs137854555
Gnomadrs137854555
Varsomers137854555
LitVarrs137854555
Maprs137854555
PheGenIrs137854555
Biobankrs137854555
1000 genomesrs137854555
hgdprs137854555
ensemblrs137854555
geneviewrs137854555
scholarrs137854555
googlers137854555
pharmgkbrs137854555
gwascentralrs137854555
openSNPrs137854555
23andMers137854555
SNPshotrs137854555
SNPdbers137854555
MSV3drs137854555
GWAS Ctlgrs137854555
Max Magnitude5.5
OMIM613113
Desc
Variant0019
Relatedalso
ClinVar
Risk rs137854555(A;A)
Alt rs137854555(A;A)
Reference Rs137854555(G;G)
Significance Pathogenic
Disease Juvenile myelomonocytic leukemia
Variation info
Gene NF1
CLNDBN Juvenile myelomonocytic leukemia
Reversed 0
HGVS NC_000017.10:g.29588828G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000378.3,