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rs1060500278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500278(C;T)
Make rs1060500278(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31223448
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500278
dbSNP (old)rs1060500278
ClinGenrs1060500278
ebirs1060500278
HLIrs1060500278
Exacrs1060500278
Gnomadrs1060500278
Varsomers1060500278
Maprs1060500278
PheGenIrs1060500278
Biobankrs1060500278
1000 genomesrs1060500278
hgdprs1060500278
ensemblrs1060500278
gopubmedrs1060500278
geneviewrs1060500278
scholarrs1060500278
googlers1060500278
pharmgkbrs1060500278
gwascentralrs1060500278
openSNPrs1060500278
23andMers1060500278
23andMe allrs1060500278
SNPshotrs1060500278
SNPdbers1060500278
MSV3drs1060500278
GWAS Ctlgrs1060500278
Max Magnitude0
ClinVar
Risk rs1060500278(T;T)
Alt rs1060500278(T;T)
Reference Rs1060500278(C;C)
Significance Pathogenic
Disease Neurofibromatosis not provided
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1 not provided
Reversed 0
HGVS NC_000017.10:g.29550466C>T
CLNSRC
CLNACC RCV000459704.1, RCV000478871.1,