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rs786204081

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204081(A;T)
Make rs786204081(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position86251959
GeneREEP1
is asnp
is mentioned by
dbSNPrs786204081
ebirs786204081
HLIrs786204081
Exacrs786204081
Varsomers786204081
Maprs786204081
PheGenIrs786204081
hapmaprs786204081
1000 genomesrs786204081
hgdprs786204081
ensemblrs786204081
gopubmedrs786204081
geneviewrs786204081
scholarrs786204081
googlers786204081
pharmgkbrs786204081
gwascentralrs786204081
openSNPrs786204081
23andMers786204081
23andMe allrs786204081
SNP Nexus

SNPshotrs786204081
SNPdbers786204081
MSV3drs786204081
GWAS Ctlgrs786204081
Max Magnitude0
ClinVar
Risk rs786204081(T;T)
Alt rs786204081(T;T)
Reference rs786204081(A;A)
Significance Pathogenic
Disease Spastic paraplegia 31
Variation info
Gene REEP1
CLNDBN Spastic paraplegia 31, autosomal dominant
Reversed 1
HGVS NC_000002.11:g.86479082T>A
CLNSRC
CLNACC RCV000167976.1,