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rs397514641

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5.5 Neurofibromatosis type 1
Make rs397514641(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position31169985
GeneNF1
is asnp
is mentioned by
dbSNPrs397514641
dbSNP (classic)rs397514641
ClinGenrs397514641
ebirs397514641
HLIrs397514641
Exacrs397514641
Gnomadrs397514641
Varsomers397514641
LitVarrs397514641
Maprs397514641
PheGenIrs397514641
Biobankrs397514641
1000 genomesrs397514641
hgdprs397514641
ensemblrs397514641
geneviewrs397514641
scholarrs397514641
googlers397514641
pharmgkbrs397514641
gwascentralrs397514641
openSNPrs397514641
23andMers397514641
SNPshotrs397514641
SNPdbers397514641
MSV3drs397514641
GWAS Ctlgrs397514641
Max Magnitude5.5
ClinVar
Risk rs397514641(T;T)
Alt rs397514641(T;T)
Reference Rs397514641(C;C)
Significance Pathogenic
Disease Neurofibromatosis not provided Hereditary cancer-predisposing syndrome
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1 not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000017.10:g.29497003C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033171.6, RCV000442381.1, RCV000492110.1,