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rs1060500245

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500245(G;T)
Make rs1060500245(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31181490
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500245
dbSNP (old)rs1060500245
ClinGenrs1060500245
ebirs1060500245
HLIrs1060500245
Exacrs1060500245
Gnomadrs1060500245
Varsomers1060500245
Maprs1060500245
PheGenIrs1060500245
Biobankrs1060500245
1000 genomesrs1060500245
hgdprs1060500245
ensemblrs1060500245
gopubmedrs1060500245
geneviewrs1060500245
scholarrs1060500245
googlers1060500245
pharmgkbrs1060500245
gwascentralrs1060500245
openSNPrs1060500245
23andMers1060500245
23andMe allrs1060500245
SNPshotrs1060500245
SNPdbers1060500245
MSV3drs1060500245
GWAS Ctlgrs1060500245
Max Magnitude0
ClinVar
Risk rs1060500245(T;T)
Alt rs1060500245(T;T)
Reference Rs1060500245(G;G)
Significance Probable-Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29508508G>T
CLNSRC
CLNACC RCV000464166.1,