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rs189652973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs189652973(C;T)
Make rs189652973(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position86217050
GeneREEP1
is asnp
is mentioned by
dbSNPrs189652973
dbSNP (old)rs189652973
ClinGenrs189652973
ebirs189652973
HLIrs189652973
Exacrs189652973
Gnomadrs189652973
Varsomers189652973
Maprs189652973
PheGenIrs189652973
Biobankrs189652973
1000 genomesrs189652973
hgdprs189652973
ensemblrs189652973
gopubmedrs189652973
geneviewrs189652973
scholarrs189652973
googlers189652973
pharmgkbrs189652973
gwascentralrs189652973
openSNPrs189652973
23andMers189652973
23andMe allrs189652973
SNPshotrs189652973
SNPdbers189652973
MSV3drs189652973
GWAS Ctlgrs189652973
Max Magnitude0

[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk rs189652973(T;T)
Alt rs189652973(T;T)
Reference Rs189652973(C;C)
Significance Probable-Pathogenic
Disease not specified Spastic Paraplegia not provided
Variation info
Gene REEP1
CLNDBN not specified Spastic Paraplegia, Dominant not provided
Reversed 0
HGVS NC_000002.11:g.86444173C>T
CLNSRC Illumina
CLNACC RCV000198109.2, RCV000327009.1, RCV000415754.1,