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rs267606599

From SNPedia

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


Make rs267606599(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position31230383
GeneNF1
is asnp
is mentioned by
dbSNPrs267606599
dbSNP (classic)rs267606599
ClinGenrs267606599
ebirs267606599
HLIrs267606599
Exacrs267606599
Gnomadrs267606599
Varsomers267606599
LitVarrs267606599
Maprs267606599
PheGenIrs267606599
Biobankrs267606599
1000 genomesrs267606599
hgdprs267606599
ensemblrs267606599
geneviewrs267606599
scholarrs267606599
googlers267606599
pharmgkbrs267606599
gwascentralrs267606599
openSNPrs267606599
23andMers267606599
SNPshotrs267606599
SNPdbers267606599
MSV3drs267606599
GWAS Ctlgrs267606599
Max Magnitude5.5
ClinVar
Risk rs267606599(A;A) rs267606599(T;T)
Alt rs267606599(A;A) rs267606599(T;T)
Reference Rs267606599(G;G)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29557401G>A; NC_000017.10:g.29557401G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000373.3, RCV000200386.1,