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rs104893915

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of one allele associated with several bone disorders
(T;T) 7 Several bone disorders associated with this genotype
ReferenceGRCh38 38.1/141
Chromosome5
Position149980428
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs104893915
ebirs104893915
HLIrs104893915
Exacrs104893915
Varsomers104893915
Maprs104893915
PheGenIrs104893915
hapmaprs104893915
1000 genomesrs104893915
hgdprs104893915
ensemblrs104893915
gopubmedrs104893915
geneviewrs104893915
scholarrs104893915
googlers104893915
pharmgkbrs104893915
gwascentralrs104893915
openSNPrs104893915
23andMers104893915
23andMe allrs104893915
SNP Nexus

SNPshotrs104893915
SNPdbers104893915
MSV3drs104893915
GWAS Ctlgrs104893915
GMAF0.0004591
Max Magnitude7

rs104893915, also known as c.835C>T, p.Arg279Trp and R279W, is a mutation in the SLC26A2 gene on chromosome 5.

The rare rs104893915(T) variant, when inherited recessively or as a compound heterozygote, has been considered a causative mutation for several conditions, including:

See OMIM 606718.0002 for more information.

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 OMIM Allelic Variant
CLNACC RCV000004305.4, RCV000004306.6, RCV000004307.5,