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rs483352924

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483352924(G;T)
Make rs483352924(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position138441091
GeneREEP2
is asnp
is mentioned by
dbSNPrs483352924
ebirs483352924
HLIrs483352924
Exacrs483352924
Varsomers483352924
Maprs483352924
PheGenIrs483352924
hapmaprs483352924
1000 genomesrs483352924
hgdprs483352924
ensemblrs483352924
gopubmedrs483352924
geneviewrs483352924
scholarrs483352924
googlers483352924
pharmgkbrs483352924
gwascentralrs483352924
openSNPrs483352924
23andMers483352924
23andMe allrs483352924
SNP Nexus

SNPshotrs483352924
SNPdbers483352924
MSV3drs483352924
GWAS Ctlgrs483352924
Max Magnitude0
ClinVar
Risk rs483352924(T;T)
Alt rs483352924(T;T)
Reference rs483352924(G;G)
Significance Pathogenic
Disease Spastic paraplegia 72
Variation info
Gene REEP2
CLNDBN Spastic paraplegia 72, autosomal recessive
Reversed 0
HGVS NC_000005.9:g.137776780G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083254.5,