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rs1060500301

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(GCTG;GCTG) 0 common in clinvar
Make rs1060500301(-;-)
Make rs1060500301(-;TGGC)
Make rs1060500301(TGGC;TGGC)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31200457
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500301
dbSNP (old)rs1060500301
ClinGenrs1060500301
ebirs1060500301
HLIrs1060500301
Exacrs1060500301
Gnomadrs1060500301
Varsomers1060500301
Maprs1060500301
PheGenIrs1060500301
Biobankrs1060500301
1000 genomesrs1060500301
hgdprs1060500301
ensemblrs1060500301
gopubmedrs1060500301
geneviewrs1060500301
scholarrs1060500301
googlers1060500301
pharmgkbrs1060500301
gwascentralrs1060500301
openSNPrs1060500301
23andMers1060500301
23andMe allrs1060500301
SNPshotrs1060500301
SNPdbers1060500301
MSV3drs1060500301
GWAS Ctlgrs1060500301
Max Magnitude0
ClinVar
Risk rs1060500301(-;-)
Alt rs1060500301(-;-)
Reference Rs1060500301(GCTG;GCTG)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29527475_29527478delTGGC
CLNSRC
CLNACC RCV000456984.1,