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rs1060500338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1060500338(-;-)
Make rs1060500338(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31337427
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500338
dbSNP (classic)rs1060500338
ClinGenrs1060500338
ebirs1060500338
HLIrs1060500338
Exacrs1060500338
Gnomadrs1060500338
Varsomers1060500338
LitVarrs1060500338
Maprs1060500338
PheGenIrs1060500338
Biobankrs1060500338
1000 genomesrs1060500338
hgdprs1060500338
ensemblrs1060500338
geneviewrs1060500338
scholarrs1060500338
googlers1060500338
pharmgkbrs1060500338
gwascentralrs1060500338
openSNPrs1060500338
23andMers1060500338
SNPshotrs1060500338
SNPdbers1060500338
MSV3drs1060500338
GWAS Ctlgrs1060500338
Max Magnitude0
ClinVar
Risk rs1060500338(-;-)
Alt rs1060500338(-;-)
Reference Rs1060500338(TT;TT)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29664445_29664446delTT
CLNSRC
CLNACC RCV000472491.1,