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rs398122972

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122972(-;-)
Make rs398122972(-;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position123256876
GeneC12orf65
is asnp
is mentioned by
dbSNPrs398122972
ebirs398122972
HLIrs398122972
Exacrs398122972
Varsomers398122972
Maprs398122972
PheGenIrs398122972
hapmaprs398122972
1000 genomesrs398122972
hgdprs398122972
ensemblrs398122972
gopubmedrs398122972
geneviewrs398122972
scholarrs398122972
googlers398122972
pharmgkbrs398122972
gwascentralrs398122972
openSNPrs398122972
23andMers398122972
23andMe allrs398122972
SNP Nexus

SNPshotrs398122972
SNPdbers398122972
MSV3drs398122972
GWAS Ctlgrs398122972
Max Magnitude0
ClinVar
Risk rs398122972(;)
Alt rs398122972(;)
Reference rs398122972(G;G)
Significance Pathogenic
Disease Spastic paraplegia 55
Variation info
Gene C12orf65
CLNDBN Spastic paraplegia 55, autosomal recessive
Reversed 0
HGVS NC_000012.11:g.123741423delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000076925.3,