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rs200488568

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200488568(C;C)
Make rs200488568(C;T)
ReferenceGRCh38 38.1/142
Chromosome22
Position50454858
GeneSBF1
is asnp
is mentioned by
dbSNPrs200488568
ebirs200488568
HLIrs200488568
Exacrs200488568
Varsomers200488568
Maprs200488568
PheGenIrs200488568
hapmaprs200488568
1000 genomesrs200488568
hgdprs200488568
ensemblrs200488568
gopubmedrs200488568
geneviewrs200488568
scholarrs200488568
googlers200488568
pharmgkbrs200488568
gwascentralrs200488568
openSNPrs200488568
23andMers200488568
23andMe allrs200488568
SNP Nexus

SNPshotrs200488568
SNPdbers200488568
MSV3drs200488568
GWAS Ctlgrs200488568
Max Magnitude0
ClinVar
Risk rs200488568(C;C)
Alt rs200488568(C;C)
Reference Rs200488568(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SBF1
CLNDBN Charcot-Marie-Tooth disease, type 4B3
Reversed 0
HGVS NC_000022.10:g.50893287T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000043694.6,