Have questions? Visit https://www.reddit.com/r/SNPedia

rs397704709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGCTGGACCTGCC;CTGCTGGACCTGCC) 0 common in clinvar
(GGACCTGCCCTGCT;GGACCTGCCCTGCT) 0 common in clinvar
Make rs397704709(-;-)
Make rs397704709(-;GGACCTGCCCTGCT)
ReferenceGRCh38 38.1/141
Chromosome7
Position4787735
GeneAP5Z1
is asnp
is mentioned by
dbSNPrs397704709
ebirs397704709
HLIrs397704709
Exacrs397704709
Varsomers397704709
Maprs397704709
PheGenIrs397704709
hapmaprs397704709
1000 genomesrs397704709
hgdprs397704709
ensemblrs397704709
gopubmedrs397704709
geneviewrs397704709
scholarrs397704709
googlers397704709
pharmgkbrs397704709
gwascentralrs397704709
openSNPrs397704709
23andMers397704709
23andMe allrs397704709
SNP Nexus

SNPshotrs397704709
SNPdbers397704709
MSV3drs397704709
GWAS Ctlgrs397704709
Max Magnitude0
ClinVar
Risk rs397704709(;)
Alt rs397704709(;)
Reference rs397704709(CTGCTGGACCTGCC;CTGCTGGACCTGCC)
Significance Pathogenic
Disease Spastic paraplegia 48
Variation info
Gene AP5Z1
CLNDBN Spastic paraplegia 48, autosomal recessive
Reversed 0
HGVS NC_000007.13:g.4827366_4827379delGGACCTGCCCTGCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000013.5,