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rs752989523

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs752989523(C;C)
Make rs752989523(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position89553853
GeneSPG7
is asnp
is mentioned by
dbSNPrs752989523
ebirs752989523
HLIrs752989523
Exacrs752989523
Varsomers752989523
Maprs752989523
PheGenIrs752989523
hapmaprs752989523
1000 genomesrs752989523
hgdprs752989523
ensemblrs752989523
gopubmedrs752989523
geneviewrs752989523
scholarrs752989523
googlers752989523
pharmgkbrs752989523
gwascentralrs752989523
openSNPrs752989523
23andMers752989523
23andMe allrs752989523
SNP Nexus

SNPshotrs752989523
SNPdbers752989523
MSV3drs752989523
GWAS Ctlgrs752989523
Max Magnitude0
ClinVar
Risk rs752989523(C;C)
Alt rs752989523(C;C)
Reference rs752989523(G;G)
Significance Pathogenic
Disease Spastic paraplegia 7
Variation info
Gene RPL13 SPG7
CLNDBN Spastic paraplegia 7
Reversed 0
HGVS NC_000016.9:g.89620261G>A; NC_000016.9:g.89620261G>C
CLNSRC
CLNACC RCV000236261.1, RCV000200425.1,