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rs12960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs12960(A;A)
Make rs12960(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position89553920
GeneSPG7
is asnp
is mentioned by
dbSNPrs12960
dbSNP (old)rs12960
ClinGenrs12960
ebirs12960
HLIrs12960
Exacrs12960
Gnomadrs12960
Varsomers12960
LitVarrs12960
Maprs12960
PheGenIrs12960
Biobankrs12960
1000 genomesrs12960
hgdprs12960
ensemblrs12960
gopubmedrs12960
geneviewrs12960
scholarrs12960
googlers12960
pharmgkbrs12960
gwascentralrs12960
openSNPrs12960
23andMers12960
23andMe allrs12960
SNPshotrs12960
SNPdbers12960
MSV3drs12960
GWAS Ctlgrs12960
GMAF0.118
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk rs12960(A;A)
Alt rs12960(A;A)
Reference Rs12960(G;G)
Significance Other
Disease not specified Spastic Paraplegia
Variation info
Gene RPL13 SPG7
CLNDBN not specified Spastic Paraplegia, Recessive
Reversed 0
HGVS NC_000016.9:g.89620328G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000118410.3, RCV000338689.1,