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rs772295894

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 5.5 Neurofibromatosis type 1
(C;C) 0 common in clinvar
(C;G) 5.5 Neurofibromatosis type 1
Make rs772295894(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position31338739
GeneNF1
is asnp
is mentioned by
dbSNPrs772295894
dbSNP (classic)rs772295894
ClinGenrs772295894
ebirs772295894
HLIrs772295894
Exacrs772295894
Gnomadrs772295894
Varsomers772295894
LitVarrs772295894
Maprs772295894
PheGenIrs772295894
Biobankrs772295894
1000 genomesrs772295894
hgdprs772295894
ensemblrs772295894
geneviewrs772295894
scholarrs772295894
googlers772295894
pharmgkbrs772295894
gwascentralrs772295894
openSNPrs772295894
23andMers772295894
SNPshotrs772295894
SNPdbers772295894
MSV3drs772295894
GWAS Ctlgrs772295894
Max Magnitude5.5
ClinVar
Risk rs772295894(A;A) rs772295894(G;G)
Alt rs772295894(A;A) rs772295894(G;G)
Reference Rs772295894(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Neurofibromatosis not provided
Variation info
Gene NF1
CLNDBN Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 not provided
Reversed 0
HGVS NC_000017.10:g.29665757C>A
CLNSRC
CLNACC RCV000164442.2, RCV000199249.1, RCV000489640.1,