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rs199474760

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199474760(A;G)
Make rs199474760(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31223470
GeneNF1
is asnp
is mentioned by
dbSNPrs199474760
dbSNP (old)rs199474760
ClinGenrs199474760
ebirs199474760
HLIrs199474760
Exacrs199474760
Gnomadrs199474760
Varsomers199474760
Maprs199474760
PheGenIrs199474760
Biobankrs199474760
1000 genomesrs199474760
hgdprs199474760
ensemblrs199474760
gopubmedrs199474760
geneviewrs199474760
scholarrs199474760
googlers199474760
pharmgkbrs199474760
gwascentralrs199474760
openSNPrs199474760
23andMers199474760
23andMe allrs199474760
SNPshotrs199474760
SNPdbers199474760
MSV3drs199474760
GWAS Ctlgrs199474760
Max Magnitude0
ClinVar
Risk rs199474760(G;G)
Alt rs199474760(G;G)
Reference Rs199474760(A;A)
Significance Pathogenic
Disease not provided Neurofibromatosis
Variation info
Gene NF1
CLNDBN not provided Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29550488A>G
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059158.1, RCV000458151.1,