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rs690016543

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs690016543(A;A)
Make rs690016543(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position50465006
GeneSBF1
is asnp
is mentioned by
dbSNPrs690016543
ebirs690016543
HLIrs690016543
Exacrs690016543
Varsomers690016543
Maprs690016543
PheGenIrs690016543
hapmaprs690016543
1000 genomesrs690016543
hgdprs690016543
ensemblrs690016543
gopubmedrs690016543
geneviewrs690016543
scholarrs690016543
googlers690016543
pharmgkbrs690016543
gwascentralrs690016543
openSNPrs690016543
23andMers690016543
23andMe allrs690016543
SNP Nexus

SNPshotrs690016543
SNPdbers690016543
MSV3drs690016543
GWAS Ctlgrs690016543
Max Magnitude0
ClinVar
Risk rs690016543(A;A)
Alt rs690016543(A;A)
Reference rs690016543(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene SBF1
CLNDBN Charcot-Marie-Tooth disease, type 4B3 Charcot-Marie-Tooth disease
Reversed 1
HGVS NC_000022.10:g.50903435C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000149508.4, RCV000162103.1,