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rs199474791

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199474791(C;C)
Make rs199474791(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31334879
GeneNF1
is asnp
is mentioned by
dbSNPrs199474791
dbSNP (old)rs199474791
ClinGenrs199474791
ebirs199474791
HLIrs199474791
Exacrs199474791
Gnomadrs199474791
Varsomers199474791
LitVarrs199474791
Maprs199474791
PheGenIrs199474791
Biobankrs199474791
1000 genomesrs199474791
hgdprs199474791
ensemblrs199474791
gopubmedrs199474791
geneviewrs199474791
scholarrs199474791
googlers199474791
pharmgkbrs199474791
gwascentralrs199474791
openSNPrs199474791
23andMers199474791
23andMe allrs199474791
SNPshotrs199474791
SNPdbers199474791
MSV3drs199474791
GWAS Ctlgrs199474791
Max Magnitude0
ClinVar
Risk rs199474791(C;C)
Alt rs199474791(C;C)
Reference Rs199474791(T;T)
Significance Probable-Pathogenic
Disease not provided Hereditary cancer-predisposing syndrome
Variation info
Gene NF1
CLNDBN not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000017.10:g.29661897T>C
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059210.1, RCV000492445.1,