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rs199474792

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199474792(C;C)
Make rs199474792(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position31334883
GeneNF1
is asnp
is mentioned by
dbSNPrs199474792
ebirs199474792
HLIrs199474792
Exacrs199474792
Varsomers199474792
Maprs199474792
PheGenIrs199474792
hapmaprs199474792
1000 genomesrs199474792
hgdprs199474792
ensemblrs199474792
gopubmedrs199474792
geneviewrs199474792
scholarrs199474792
googlers199474792
pharmgkbrs199474792
gwascentralrs199474792
openSNPrs199474792
23andMers199474792
23andMe allrs199474792
SNP Nexus

SNPshotrs199474792
SNPdbers199474792
MSV3drs199474792
GWAS Ctlgrs199474792
Max Magnitude0
ClinVar
Risk rs199474792(C;C)
Alt rs199474792(C;C)
Reference rs199474792(T;T)
Significance Pathogenic
Disease Neurofibromatosis not provided
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1 not provided
Reversed 0
HGVS NC_000017.10:g.29661901T>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000000362.1, RCV000059211.1,


[PMID 2114220] A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.