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rs483352925

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs483352925(A;A)
Make rs483352925(A;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position138444447
GeneREEP2
is asnp
is mentioned by
dbSNPrs483352925
ebirs483352925
HLIrs483352925
Exacrs483352925
Varsomers483352925
Maprs483352925
PheGenIrs483352925
hapmaprs483352925
1000 genomesrs483352925
hgdprs483352925
ensemblrs483352925
gopubmedrs483352925
geneviewrs483352925
scholarrs483352925
googlers483352925
pharmgkbrs483352925
gwascentralrs483352925
openSNPrs483352925
23andMers483352925
23andMe allrs483352925
SNP Nexus

SNPshotrs483352925
SNPdbers483352925
MSV3drs483352925
GWAS Ctlgrs483352925
Max Magnitude0
ClinVar
Risk rs483352925(A;A)
Alt rs483352925(A;A)
Reference rs483352925(T;T)
Significance Pathogenic
Disease Spastic paraplegia 72
Variation info
Gene REEP2
CLNDBN Spastic paraplegia 72, autosomal recessive
Reversed 0
HGVS NC_000005.9:g.137780136T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000083255.5,