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rs72547551

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72547551(C;T)
Make rs72547551(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position89550545
GeneSPG7
is asnp
is mentioned by
dbSNPrs72547551
ebirs72547551
HLIrs72547551
Exacrs72547551
Varsomers72547551
Maprs72547551
PheGenIrs72547551
hapmaprs72547551
1000 genomesrs72547551
hgdprs72547551
ensemblrs72547551
gopubmedrs72547551
geneviewrs72547551
scholarrs72547551
googlers72547551
pharmgkbrs72547551
gwascentralrs72547551
openSNPrs72547551
23andMers72547551
23andMe allrs72547551
SNP Nexus

SNPshotrs72547551
SNPdbers72547551
MSV3drs72547551
GWAS Ctlgrs72547551
Max Magnitude0
ClinVar
Risk rs72547551(T;T)
Alt rs72547551(T;T)
Reference rs72547551(C;C)
Significance Pathogenic
Disease Spastic paraplegia 7
Variation info
Gene RPL13 SPG7
CLNDBN Spastic paraplegia 7
Reversed 0
HGVS NC_000016.9:g.89616953C>T
CLNSRC
CLNACC RCV000235251.1,