Rs104893919

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893919(C;T)
Make rs104893919(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149978184
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs104893919
Exacrs104893919
PheGenIrs104893919
nextbiors104893919
hapmaprs104893919
1000 genomesrs104893919
hgdprs104893919
ensemblrs104893919
gopubmedrs104893919
geneviewrs104893919
scholarrs104893919
googlers104893919
pharmgkbrs104893919
gwascentralrs104893919
openSNPrs104893919
23andMers104893919
23andMe allrs104893919
SNP Nexus

SNPshotrs104893919
SNPdbers104893919
MSV3drs104893919
OMIM606718
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893919(T;T)
Alt rs104893919(T;T)
Reference rs104893919(C;C)
Significance Pathogenic
Disease Diastrophic dysplasia Achondrogenesis
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia Achondrogenesis, type IB
Reversed 0
HGVS NC_000005.9:g.149357747C>T
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000004310.2, RCV000023568.1,