rs104893921

Orientation

plus

Stabilized

plus

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

Make rs104893921(A;C)

Make rs104893921(C;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149980954

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs104893921
dbSNP (classic)	rs104893921
ClinGen	rs104893921
ebi	rs104893921
HLI	rs104893921
Exac	rs104893921
Gnomad	rs104893921
Varsome	rs104893921
LitVar	rs104893921
Map	rs104893921
PheGenI	rs104893921
Biobank	rs104893921
1000 genomes	rs104893921
hgdp	rs104893921
ensembl	rs104893921
geneview	rs104893921
scholar	rs104893921
google	rs104893921
pharmgkb	rs104893921
gwascentral	rs104893921
openSNP	rs104893921
23andMe	rs104893921
SNPshot	rs104893921
SNPdbe	rs104893921
MSV3d	rs104893921
GWAS Ctlg	rs104893921

Max Magnitude

0

OMIM	606718
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104893921(C;C)
Alt	rs104893921(C;C)
Reference	Rs104893921(A;A)
Significance	Pathogenic
Disease	Diastrophic dysplasia Diastrophic dysplasia
Variation	info
Gene	SLC26A2
CLNDBN	Diastrophic dysplasia, broad bone-platyspondylic variant Diastrophic dysplasia
Reversed	0
HGVS	NC_000005.9:g.149360517A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004311.2, RCV000055758.1,