rs121908078

Orientation

plus

Stabilized

plus

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

Make rs121908078(A;A)

Make rs121908078(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149981128

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs121908078
dbSNP (classic)	rs121908078
ClinGen	rs121908078
ebi	rs121908078
HLI	rs121908078
Exac	rs121908078
Gnomad	rs121908078
Varsome	rs121908078
LitVar	rs121908078
Map	rs121908078
PheGenI	rs121908078
Biobank	rs121908078
1000 genomes	rs121908078
hgdp	rs121908078
ensembl	rs121908078
geneview	rs121908078
scholar	rs121908078
google	rs121908078
pharmgkb	rs121908078
gwascentral	rs121908078
openSNP	rs121908078
23andMe	rs121908078
SNPshot	rs121908078
SNPdbe	rs121908078
MSV3d	rs121908078
GWAS Ctlg	rs121908078

Max Magnitude

0

OMIM	606718
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121908078(A;A)
Alt	rs121908078(A;A)
Reference	Rs121908078(C;C)
Significance	Pathogenic
Disease	de la Chapelle dysplasia Diastrophic dysplasia
Variation	info
Gene	SLC26A2
CLNDBN	de la Chapelle dysplasia Diastrophic dysplasia
Reversed	0
HGVS	NC_000005.9:g.149360691C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004314.3, RCV000004315.3,