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rs771529172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 5.5 Neurofibromatosis type 1
(G;G) 0 common in clinvar
Make rs771529172(G;T)
Make rs771529172(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position31327719
GeneNF1
is asnp
is mentioned by
dbSNPrs771529172
dbSNP (classic)rs771529172
ClinGenrs771529172
ebirs771529172
HLIrs771529172
Exacrs771529172
Gnomadrs771529172
Varsomers771529172
LitVarrs771529172
Maprs771529172
PheGenIrs771529172
Biobankrs771529172
1000 genomesrs771529172
hgdprs771529172
ensemblrs771529172
geneviewrs771529172
scholarrs771529172
googlers771529172
pharmgkbrs771529172
gwascentralrs771529172
openSNPrs771529172
23andMers771529172
SNPshotrs771529172
SNPdbers771529172
MSV3drs771529172
GWAS Ctlgrs771529172
Max Magnitude5.5
ClinVar
Risk rs771529172(A;A) rs771529172(C;C) rs771529172(T;T)
Alt rs771529172(A;A) rs771529172(C;C) rs771529172(T;T)
Reference Rs771529172(G;G)
Significance Pathogenic
Disease Neurofibromatosis Hereditary cancer-predisposing syndrome
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000017.10:g.29654737G>A; NC_000017.10:g.29654737G>C; NC_000017.10:g.29654737G>T
CLNSRC
CLNACC RCV000459557.1, RCV000190891.1, RCV000190890.1, RCV000492566.1,