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rs267606604

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5.5 Neurofibromatosis type 1
Make rs267606604(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position31336328
GeneNF1
is asnp
is mentioned by
dbSNPrs267606604
dbSNP (classic)rs267606604
ClinGenrs267606604
ebirs267606604
HLIrs267606604
Exacrs267606604
Gnomadrs267606604
Varsomers267606604
LitVarrs267606604
Maprs267606604
PheGenIrs267606604
Biobankrs267606604
1000 genomesrs267606604
hgdprs267606604
ensemblrs267606604
geneviewrs267606604
scholarrs267606604
googlers267606604
pharmgkbrs267606604
gwascentralrs267606604
openSNPrs267606604
23andMers267606604
SNPshotrs267606604
SNPdbers267606604
MSV3drs267606604
GWAS Ctlgrs267606604
Max Magnitude5.5
ClinVar
Risk rs267606604(G;G)
Alt rs267606604(G;G)
Reference Rs267606604(A;A)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1 Neurofibromatosis, familial spinal
Reversed 0
HGVS NC_000017.10:g.29663346A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000387.6, RCV000000388.4,