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rs1060500367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500367(A;A)
Make rs1060500367(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31229149
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500367
dbSNP (classic)rs1060500367
ClinGenrs1060500367
ebirs1060500367
HLIrs1060500367
Exacrs1060500367
Gnomadrs1060500367
Varsomers1060500367
LitVarrs1060500367
Maprs1060500367
PheGenIrs1060500367
Biobankrs1060500367
1000 genomesrs1060500367
hgdprs1060500367
ensemblrs1060500367
geneviewrs1060500367
scholarrs1060500367
googlers1060500367
pharmgkbrs1060500367
gwascentralrs1060500367
openSNPrs1060500367
23andMers1060500367
SNPshotrs1060500367
SNPdbers1060500367
MSV3drs1060500367
GWAS Ctlgrs1060500367
Max Magnitude0
ClinVar
Risk rs1060500367(A;A)
Alt rs1060500367(A;A)
Reference Rs1060500367(G;G)
Significance Probable-Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29556167G>A
CLNSRC
CLNACC RCV000456671.1,