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rs267607055

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607055(C;T)
Make rs267607055(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149978050
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs267607055
ebirs267607055
HLIrs267607055
Exacrs267607055
Varsomers267607055
Maprs267607055
PheGenIrs267607055
hapmaprs267607055
1000 genomesrs267607055
hgdprs267607055
ensemblrs267607055
gopubmedrs267607055
geneviewrs267607055
scholarrs267607055
googlers267607055
pharmgkbrs267607055
gwascentralrs267607055
openSNPrs267607055
23andMers267607055
23andMe allrs267607055
SNP Nexus

SNPshotrs267607055
SNPdbers267607055
MSV3drs267607055
GWAS Ctlgrs267607055
Max Magnitude0
ClinVar
Risk rs267607055(T;T)
Alt rs267607055(T;T)
Reference rs267607055(C;C)
Significance Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149357613C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004316.3,