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rs483352923

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs483352923(A;A)
Make rs483352923(A;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position138441386
GeneREEP2
is asnp
is mentioned by
dbSNPrs483352923
ebirs483352923
HLIrs483352923
Exacrs483352923
Varsomers483352923
Maprs483352923
PheGenIrs483352923
hapmaprs483352923
1000 genomesrs483352923
hgdprs483352923
ensemblrs483352923
gopubmedrs483352923
geneviewrs483352923
scholarrs483352923
googlers483352923
pharmgkbrs483352923
gwascentralrs483352923
openSNPrs483352923
23andMers483352923
23andMe allrs483352923
SNP Nexus

SNPshotrs483352923
SNPdbers483352923
MSV3drs483352923
GWAS Ctlgrs483352923
Max Magnitude0
ClinVar
Risk rs483352923(A;A)
Alt rs483352923(A;A)
Reference rs483352923(T;T)
Significance Pathogenic
Disease Spastic paraplegia 72
Variation info
Gene REEP2
CLNDBN Spastic paraplegia 72, autosomal dominant
Reversed 0
HGVS NC_000005.9:g.137777075T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000083253.5,