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rs397514539

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514539(C;T)
Make rs397514539(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position123256924
GeneC12orf65
is asnp
is mentioned by
dbSNPrs397514539
ebirs397514539
HLIrs397514539
Exacrs397514539
Varsomers397514539
Maprs397514539
PheGenIrs397514539
hapmaprs397514539
1000 genomesrs397514539
hgdprs397514539
ensemblrs397514539
gopubmedrs397514539
geneviewrs397514539
scholarrs397514539
googlers397514539
pharmgkbrs397514539
gwascentralrs397514539
openSNPrs397514539
23andMers397514539
23andMe allrs397514539
SNP Nexus

SNPshotrs397514539
SNPdbers397514539
MSV3drs397514539
GWAS Ctlgrs397514539
Max Magnitude0
ClinVar
Risk rs397514539(T;T)
Alt rs397514539(T;T)
Reference rs397514539(C;C)
Significance Pathogenic
Disease Spastic paraplegia 55
Variation info
Gene C12orf65
CLNDBN Spastic paraplegia 55, autosomal recessive
Reversed 0
HGVS NC_000012.11:g.123741471C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032782.3,