rs104893919

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs104893919(C;T)

Make rs104893919(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149978184

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs104893919
dbSNP (classic)	rs104893919
ClinGen	rs104893919
ebi	rs104893919
HLI	rs104893919
Exac	rs104893919
Gnomad	rs104893919
Varsome	rs104893919
LitVar	rs104893919
Map	rs104893919
PheGenI	rs104893919
Biobank	rs104893919
1000 genomes	rs104893919
hgdp	rs104893919
ensembl	rs104893919
geneview	rs104893919
scholar	rs104893919
google	rs104893919
pharmgkb	rs104893919
gwascentral	rs104893919
openSNP	rs104893919
23andMe	rs104893919
SNPshot	rs104893919
SNPdbe	rs104893919
MSV3d	rs104893919
GWAS Ctlg	rs104893919

Max Magnitude

0

OMIM	606718
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104893919(T;T)
Alt	rs104893919(T;T)
Reference	Rs104893919(C;C)
Significance	Pathogenic
Disease	Diastrophic dysplasia Achondrogenesis Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 not provided
Variation	info
Gene	SLC26A2
CLNDBN	Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 not provided
Reversed	0
HGVS	NC_000005.9:g.149357747C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004310.5, RCV000023568.5, RCV000175526.1, RCV000411745.1, RCV000412934.1,