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rs398122365

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122365(C;T)
Make rs398122365(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position123256945
GeneC12orf65
is asnp
is mentioned by
dbSNPrs398122365
ebirs398122365
HLIrs398122365
Exacrs398122365
Varsomers398122365
Maprs398122365
PheGenIrs398122365
hapmaprs398122365
1000 genomesrs398122365
hgdprs398122365
ensemblrs398122365
gopubmedrs398122365
geneviewrs398122365
scholarrs398122365
googlers398122365
pharmgkbrs398122365
gwascentralrs398122365
openSNPrs398122365
23andMers398122365
23andMe allrs398122365
SNP Nexus

SNPshotrs398122365
SNPdbers398122365
MSV3drs398122365
GWAS Ctlgrs398122365
Max Magnitude0
ClinVar
Risk rs398122365(T;T)
Alt rs398122365(T;T)
Reference rs398122365(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.123741492C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074452.3,