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rs199474778

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199474778(C;C)
Make rs199474778(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position31227549
GeneNF1
is asnp
is mentioned by
dbSNPrs199474778
ebirs199474778
HLIrs199474778
Exacrs199474778
Varsomers199474778
Maprs199474778
PheGenIrs199474778
hapmaprs199474778
1000 genomesrs199474778
hgdprs199474778
ensemblrs199474778
gopubmedrs199474778
geneviewrs199474778
scholarrs199474778
googlers199474778
pharmgkbrs199474778
gwascentralrs199474778
openSNPrs199474778
23andMers199474778
23andMe allrs199474778
SNP Nexus

SNPshotrs199474778
SNPdbers199474778
MSV3drs199474778
GWAS Ctlgrs199474778
Max Magnitude0
ClinVar
Risk rs199474778(A,C;A,C)
Alt rs199474778(A,C;A,C)
Reference rs199474778(G;G)
Significance Pathogenic
Disease Neurofibromatosis not provided
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1 not provided
Reversed 0
HGVS NC_000017.10:g.29554567G>A; NC_000017.10:g.29554567G>C
CLNSRC UniProtKB (variants)
CLNACC RCV000230729.1, RCV000059171.1,