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rs121918357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918357(C;C)
Make rs121918357(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position89553932
GeneSPG7
is asnp
is mentioned by
dbSNPrs121918357
ebirs121918357
HLIrs121918357
Exacrs121918357
Varsomers121918357
Maprs121918357
PheGenIrs121918357
hapmaprs121918357
1000 genomesrs121918357
hgdprs121918357
ensemblrs121918357
gopubmedrs121918357
geneviewrs121918357
scholarrs121918357
googlers121918357
pharmgkbrs121918357
gwascentralrs121918357
openSNPrs121918357
23andMers121918357
23andMe allrs121918357
SNP Nexus

SNPshotrs121918357
SNPdbers121918357
MSV3drs121918357
GWAS Ctlgrs121918357
Max Magnitude0
OMIM602783
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918357(C;C)
Alt rs121918357(C;C)
Reference rs121918357(G;G)
Significance Pathogenic
Disease Spastic paraplegia 7
Variation info
Gene RPL13 SPG7
CLNDBN Spastic paraplegia 7
Reversed 0
HGVS NC_000016.9:g.89620340G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007217.4,