rs104893915

plus

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

Reference

GRCh38 38.1/141

Chromosome

5

Position

149980428

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs104893915
dbSNP (classic)	rs104893915
ClinGen	rs104893915
ebi	rs104893915
HLI	rs104893915
Exac	rs104893915
Gnomad	rs104893915
Varsome	rs104893915
LitVar	rs104893915
Map	rs104893915
PheGenI	rs104893915
Biobank	rs104893915
1000 genomes	rs104893915
hgdp	rs104893915
ensembl	rs104893915
geneview	rs104893915
scholar	rs104893915
google	rs104893915
pharmgkb	rs104893915
gwascentral	rs104893915
openSNP	rs104893915
23andMe	rs104893915
SNPshot	rs104893915
SNPdbe	rs104893915
MSV3d	rs104893915
GWAS Ctlg	rs104893915

GMAF

0.0004591

Max Magnitude

7

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.

OMIM	606718
Desc
Variant	0002
Related	also

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 not provided SLC26A2-Related Disorders
Variation	info
Gene	SLC26A2
CLNDBN	Atelosteogenesis type 2 Diastrophic dysplasia Multiple epiphyseal dysplasia 4 not provided SLC26A2-Related Disorders
Reversed	0
HGVS	NC_000005.9:g.149359991C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004305.4, RCV000004306.6, RCV000004307.5, RCV000266165.1, RCV000275762.1,