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rs1060500344

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060500344(A;T)
Make rs1060500344(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31338138
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500344
dbSNP (old)rs1060500344
ClinGenrs1060500344
ebirs1060500344
HLIrs1060500344
Exacrs1060500344
Gnomadrs1060500344
Varsomers1060500344
LitVarrs1060500344
Maprs1060500344
PheGenIrs1060500344
Biobankrs1060500344
1000 genomesrs1060500344
hgdprs1060500344
ensemblrs1060500344
gopubmedrs1060500344
geneviewrs1060500344
scholarrs1060500344
googlers1060500344
pharmgkbrs1060500344
gwascentralrs1060500344
openSNPrs1060500344
23andMers1060500344
23andMe allrs1060500344
SNPshotrs1060500344
SNPdbers1060500344
MSV3drs1060500344
GWAS Ctlgrs1060500344
Max Magnitude0
ClinVar
Risk rs1060500344(T;T)
Alt rs1060500344(T;T)
Reference Rs1060500344(A;A)
Significance Probable-Pathogenic
Disease Hereditary cancer-predisposing syndrome Neurofibromatosis
Variation info
Gene NF1
CLNDBN Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29665156A>G; NC_000017.10:g.29665156A>T
CLNSRC
CLNACC RCV000492274.1, RCV000463991.1,