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rs2233695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2233695(C;T)
Make rs2233695(T;T)
ReferenceGRCh38.p7 38.3/149
ChromosomeX
Position103776965
GenePLP1
is asnp
is mentioned by
dbSNPrs2233695
dbSNP (old)rs2233695
ClinGenrs2233695
ebirs2233695
HLIrs2233695
Exacrs2233695
Gnomadrs2233695
Varsomers2233695
Maprs2233695
PheGenIrs2233695
Biobankrs2233695
1000 genomesrs2233695
hgdprs2233695
ensemblrs2233695
gopubmedrs2233695
geneviewrs2233695
scholarrs2233695
googlers2233695
pharmgkbrs2233695
gwascentralrs2233695
openSNPrs2233695
23andMers2233695
23andMe allrs2233695
SNPshotrs2233695
SNPdbers2233695
MSV3drs2233695
GWAS Ctlgrs2233695
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[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 rs2233695(T;T)
Alt rs2233695(T;T)
Reference Rs2233695(C;C)
Significance Non-pathogenic
Disease Spastic paraplegia 2
Variation info
Gene PLP1
CLNDBN Spastic paraplegia 2
Reversed 0
HGVS NC_000023.10:g.103031893C>T
CLNSRC
CLNACC RCV000204678.1,