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rs1060500359

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500359(G;T)
Make rs1060500359(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31340598
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500359
dbSNP (classic)rs1060500359
ClinGenrs1060500359
ebirs1060500359
HLIrs1060500359
Exacrs1060500359
Gnomadrs1060500359
Varsomers1060500359
LitVarrs1060500359
Maprs1060500359
PheGenIrs1060500359
Biobankrs1060500359
1000 genomesrs1060500359
hgdprs1060500359
ensemblrs1060500359
geneviewrs1060500359
scholarrs1060500359
googlers1060500359
pharmgkbrs1060500359
gwascentralrs1060500359
openSNPrs1060500359
23andMers1060500359
SNPshotrs1060500359
SNPdbers1060500359
MSV3drs1060500359
GWAS Ctlgrs1060500359
Max Magnitude0
ClinVar
Risk rs1060500359(T;T)
Alt rs1060500359(T;T)
Reference Rs1060500359(G;G)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29667616G>T
CLNSRC
CLNACC RCV000456532.1,