Rs104893915

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Orientationplus
is asnp
is mentioned by
dbSNPrs104893915
PheGenIrs104893915
nextbiors104893915
hapmaprs104893915
1000 genomesrs104893915
hgdprs104893915
ensemblrs104893915
gopubmedrs104893915
geneviewrs104893915
scholarrs104893915
googlers104893915
pharmgkbrs104893915
gwascentralrs104893915
openSNPrs104893915
23andMers104893915
23andMe allrs104893915
SNP Nexus

SNPshotrs104893915
SNPdbers104893915
MSV3drs104893915
GeneSLC26A2
Chromosome5
Orientationplus
GMAF0.0004591
Position149359991
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893915(C;T)
Make rs104893915(T;T)
OMIM606718
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893915(T;T)
Alt rs104893915(T;T)
Reference rs104893915(C;C)
Significance 5
Disease Atelosteogenesis type 2, Diastrophic dysplasia, Multiple epiphyseal dysplasia 4
ClinVar info
Gene SLC26A2
CLNDBN Atelosteogenesis type 2, Diastrophic dysplasia, Multiple epiphyseal dysplasia 4
Reversed 0
CLNHGVS NC_000005.9:g.149359991C>T
CLNSRC GeneReviews, OMIM Allelic Variant
CLNACC RCV000004305.1, RCV000004306.2, RCV000004307.1