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rs137853262

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853262(A;G)
Make rs137853262(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position129567333
GeneOCRL
is asnp
is mentioned by
dbSNPrs137853262
ebirs137853262
HLIrs137853262
Exacrs137853262
Varsomers137853262
Maprs137853262
PheGenIrs137853262
hapmaprs137853262
1000 genomesrs137853262
hgdprs137853262
ensemblrs137853262
gopubmedrs137853262
geneviewrs137853262
scholarrs137853262
googlers137853262
pharmgkbrs137853262
gwascentralrs137853262
openSNPrs137853262
23andMers137853262
23andMe allrs137853262
SNP Nexus

SNPshotrs137853262
SNPdbers137853262
MSV3drs137853262
GWAS Ctlgrs137853262
Max Magnitude0
OMIM300535
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853262(G;G)
Alt rs137853262(G;G)
Reference rs137853262(A;A)
Significance Pathogenic
Disease Dent disease 2
Variation info
Gene OCRL
CLNDBN Dent disease 2
Reversed 0
HGVS NC_000023.10:g.128701310A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000011607.6,


[PMID 15627218OA-icon.png] Dent Disease with mutations in OCRL1.

OMIM300555
Desc
Variant
Relatedalso