Rs104893915

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893915(C;T)
Make rs104893915(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149980428
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs104893915
Exacrs104893915
PheGenIrs104893915
nextbiors104893915
hapmaprs104893915
1000 genomesrs104893915
hgdprs104893915
ensemblrs104893915
gopubmedrs104893915
geneviewrs104893915
scholarrs104893915
googlers104893915
pharmgkbrs104893915
gwascentralrs104893915
openSNPrs104893915
23andMers104893915
23andMe allrs104893915
SNP Nexus

SNPshotrs104893915
SNPdbers104893915
MSV3drs104893915
GMAF0.0004591
Max Magnitude0
OMIM606718
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893915(T;T)
Alt rs104893915(T;T)
Reference rs104893915(C;C)
Significance Pathogenic
Disease Atelosteogenesis type 2 Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Variation info
Gene SLC26A2
CLNDBN Atelosteogenesis type 2 Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Reversed 0
HGVS NC_000005.9:g.149359991C>T
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000004305.1, RCV000004306.2, RCV000004307.1,