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rs778405030

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs778405030(C;T)
Make rs778405030(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position31206297
GeneNF1
is asnp
is mentioned by
dbSNPrs778405030
ebirs778405030
HLIrs778405030
Exacrs778405030
Varsomers778405030
Maprs778405030
PheGenIrs778405030
hapmaprs778405030
1000 genomesrs778405030
hgdprs778405030
ensemblrs778405030
gopubmedrs778405030
geneviewrs778405030
scholarrs778405030
googlers778405030
pharmgkbrs778405030
gwascentralrs778405030
openSNPrs778405030
23andMers778405030
23andMe allrs778405030
SNP Nexus

SNPshotrs778405030
SNPdbers778405030
MSV3drs778405030
GWAS Ctlgrs778405030
Max Magnitude0
ClinVar
Risk rs778405030(T;T)
Alt rs778405030(T;T)
Reference rs778405030(C;C)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Neurofibromatosis
Variation info
Gene NF1
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29533315C>T
CLNSRC
CLNACC RCV000213237.1, RCV000225855.1,