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rs199474762

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199474762(C;C)
Make rs199474762(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position31227254
GeneNF1
is asnp
is mentioned by
dbSNPrs199474762
ebirs199474762
HLIrs199474762
Exacrs199474762
Varsomers199474762
Maprs199474762
PheGenIrs199474762
hapmaprs199474762
1000 genomesrs199474762
hgdprs199474762
ensemblrs199474762
gopubmedrs199474762
geneviewrs199474762
scholarrs199474762
googlers199474762
pharmgkbrs199474762
gwascentralrs199474762
openSNPrs199474762
23andMers199474762
23andMe allrs199474762
SNP Nexus

SNPshotrs199474762
SNPdbers199474762
MSV3drs199474762
GWAS Ctlgrs199474762
Max Magnitude0
ClinVar
Risk rs199474762(C,G;C,G)
Alt rs199474762(C,G;C,G)
Reference rs199474762(T;T)
Significance Pathogenic
Disease not provided Hereditary cancer-predisposing syndrome Neurofibromatosis Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene NF1
CLNDBN not provided Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000017.10:g.29554272T>C; NC_000017.10:g.29554272T>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059164.1, RCV000165288.1, RCV000220933.1, RCV000196515.1, RCV000222376.1,