Rs104893921

From SNPedia
Jump to: navigation, search

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893921(A;C)
Make rs104893921(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position149980954
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs104893921
Exacrs104893921
PheGenIrs104893921
nextbiors104893921
hapmaprs104893921
1000 genomesrs104893921
hgdprs104893921
ensemblrs104893921
gopubmedrs104893921
geneviewrs104893921
scholarrs104893921
googlers104893921
pharmgkbrs104893921
gwascentralrs104893921
openSNPrs104893921
23andMers104893921
23andMe allrs104893921
SNP Nexus

SNPshotrs104893921
SNPdbers104893921
MSV3drs104893921
OMIM606718
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104893921(C;C)
Alt rs104893921(C;C)
Reference rs104893921(A;A)
Significance Pathogenic
Disease Diastrophic dysplasia Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia, broad bone-platyspondylic variant Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149360517A>C
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000004311.1, RCV000055758.1,