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rs267606602

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5.5 Neurofibromatosis type 1
Make rs267606602(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position31221842
GeneNF1
is asnp
is mentioned by
dbSNPrs267606602
dbSNP (classic)rs267606602
ClinGenrs267606602
ebirs267606602
HLIrs267606602
Exacrs267606602
Gnomadrs267606602
Varsomers267606602
LitVarrs267606602
Maprs267606602
PheGenIrs267606602
Biobankrs267606602
1000 genomesrs267606602
hgdprs267606602
ensemblrs267606602
geneviewrs267606602
scholarrs267606602
googlers267606602
pharmgkbrs267606602
gwascentralrs267606602
openSNPrs267606602
23andMers267606602
SNPshotrs267606602
SNPdbers267606602
MSV3drs267606602
GWAS Ctlgrs267606602
Max Magnitude5.5
ClinVar
Risk rs267606602(G;G)
Alt rs267606602(G;G)
Reference Rs267606602(A;A)
Significance Pathogenic
Disease Juvenile myelomonocytic leukemia Neurofibromatosis
Variation info
Gene NF1
CLNDBN Juvenile myelomonocytic leukemia Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29548860A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000380.4, RCV000190422.3,