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rs1060500001

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500001(A;A)
Make rs1060500001(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position9853539
GeneLOC101928008, SBF2
is asnp
is mentioned by
dbSNPrs1060500001
dbSNP (old)rs1060500001
ClinGenrs1060500001
ebirs1060500001
HLIrs1060500001
Exacrs1060500001
Gnomadrs1060500001
Varsomers1060500001
Maprs1060500001
PheGenIrs1060500001
Biobankrs1060500001
1000 genomesrs1060500001
hgdprs1060500001
ensemblrs1060500001
gopubmedrs1060500001
geneviewrs1060500001
scholarrs1060500001
googlers1060500001
pharmgkbrs1060500001
gwascentralrs1060500001
openSNPrs1060500001
23andMers1060500001
23andMe allrs1060500001
SNPshotrs1060500001
SNPdbers1060500001
MSV3drs1060500001
GWAS Ctlgrs1060500001
Max Magnitude0
ClinVar
Risk rs1060500001(A;A)
Alt rs1060500001(A;A)
Reference Rs1060500001(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SBF2 LOC101928008
CLNDBN Charcot-Marie-Tooth disease, type IV
Reversed 1
HGVS NC_000011.9:g.9875086C>T
CLNSRC
CLNACC RCV000471792.1,