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rs121908610

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908610(C;T)
Make rs121908610(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position64604827
GeneCYP7B1
is asnp
is mentioned by
dbSNPrs121908610
dbSNP (classic)rs121908610
ClinGenrs121908610
ebirs121908610
HLIrs121908610
Exacrs121908610
Gnomadrs121908610
Varsomers121908610
LitVarrs121908610
Maprs121908610
PheGenIrs121908610
Biobankrs121908610
1000 genomesrs121908610
hgdprs121908610
ensemblrs121908610
geneviewrs121908610
scholarrs121908610
googlers121908610
pharmgkbrs121908610
gwascentralrs121908610
openSNPrs121908610
23andMers121908610
SNPshotrs121908610
SNPdbers121908610
MSV3drs121908610
GWAS Ctlgrs121908610
Max Magnitude0
OMIM603711
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908610(T;T)
Alt rs121908610(T;T)
Reference Rs121908610(C;C)
Significance Pathogenic
Disease Spastic paraplegia 5A
Variation info
Gene CYP7B1
CLNDBN Spastic paraplegia 5A
Reversed 1
HGVS NC_000008.10:g.65517384G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006475.3,