Rs104893916

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893916(G;T)
Make rs104893916(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149981626
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs104893916
Exacrs104893916
PheGenIrs104893916
nextbiors104893916
hapmaprs104893916
1000 genomesrs104893916
hgdprs104893916
ensemblrs104893916
gopubmedrs104893916
geneviewrs104893916
scholarrs104893916
googlers104893916
pharmgkbrs104893916
gwascentralrs104893916
openSNPrs104893916
23andMers104893916
23andMe allrs104893916
SNP Nexus

SNPshotrs104893916
SNPdbers104893916
MSV3drs104893916
Max Magnitude0
OMIM606718
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893916(T;T)
Alt rs104893916(T;T)
Reference rs104893916(G;G)
Significance Pathogenic
Disease Achondrogenesis Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Achondrogenesis, type IB Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149361189G>T
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000023570.1, RCV000055761.1,