Rs104893924

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Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893924(A;A)
Make rs104893924(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149981550
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs104893924
Exacrs104893924
PheGenIrs104893924
nextbiors104893924
hapmaprs104893924
1000 genomesrs104893924
hgdprs104893924
ensemblrs104893924
gopubmedrs104893924
geneviewrs104893924
scholarrs104893924
googlers104893924
pharmgkbrs104893924
gwascentralrs104893924
openSNPrs104893924
23andMers104893924
23andMe allrs104893924
SNP Nexus

SNPshotrs104893924
SNPdbers104893924
MSV3drs104893924
OMIM606718
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104893924(A;A)
Alt rs104893924(A;A)
Reference rs104893924(T;T)
Significance Pathogenic
Disease Multiple epiphyseal dysplasia 4 Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Multiple epiphyseal dysplasia 4 Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149361113T>A
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000004313.1, RCV000055760.1,