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rs121908611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908611(A;A)
Make rs121908611(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position64596913
GeneCYP7B1
is asnp
is mentioned by
dbSNPrs121908611
dbSNP (classic)rs121908611
ClinGenrs121908611
ebirs121908611
HLIrs121908611
Exacrs121908611
Gnomadrs121908611
Varsomers121908611
LitVarrs121908611
Maprs121908611
PheGenIrs121908611
Biobankrs121908611
1000 genomesrs121908611
hgdprs121908611
ensemblrs121908611
geneviewrs121908611
scholarrs121908611
googlers121908611
pharmgkbrs121908611
gwascentralrs121908611
openSNPrs121908611
23andMers121908611
SNPshotrs121908611
SNPdbers121908611
MSV3drs121908611
GWAS Ctlgrs121908611
Max Magnitude0
OMIM603711
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908611(A;A)
Alt rs121908611(A;A)
Reference Rs121908611(G;G)
Significance Pathogenic
Disease Spastic paraplegia 5A Spastic paraplegia not provided
Variation info
Gene CYP7B1
CLNDBN Spastic paraplegia 5A Spastic paraplegia not provided
Reversed 1
HGVS NC_000008.10:g.65509470C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006477.3, RCV000206595.1, RCV000329074.1,