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rs121908078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908078(A;A)
Make rs121908078(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position149981128
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs121908078
ebirs121908078
HLIrs121908078
Exacrs121908078
Varsomers121908078
Maprs121908078
PheGenIrs121908078
hapmaprs121908078
1000 genomesrs121908078
hgdprs121908078
ensemblrs121908078
gopubmedrs121908078
geneviewrs121908078
scholarrs121908078
googlers121908078
pharmgkbrs121908078
gwascentralrs121908078
openSNPrs121908078
23andMers121908078
23andMe allrs121908078
SNP Nexus

SNPshotrs121908078
SNPdbers121908078
MSV3drs121908078
GWAS Ctlgrs121908078
Max Magnitude0
OMIM606718
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121908078(A;A)
Alt rs121908078(A;A)
Reference Rs121908078(C;C)
Significance Pathogenic
Disease de la Chapelle dysplasia Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN de la Chapelle dysplasia Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149360691C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004314.3, RCV000004315.3,