rs30832

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(G;G)	0	common in complete genomics

Make rs30832(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149981314

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs30832
dbSNP (classic)	rs30832
ClinGen	rs30832
ebi	rs30832
HLI	rs30832
Exac	rs30832
Gnomad	rs30832
Varsome	rs30832
LitVar	rs30832
Map	rs30832
PheGenI	rs30832
Biobank	rs30832
1000 genomes	rs30832
hgdp	rs30832
ensembl	rs30832
geneview	rs30832
scholar	rs30832
google	rs30832
pharmgkb	rs30832
gwascentral	rs30832
openSNP	rs30832
23andMe	rs30832
SNPshot	rs30832
SNPdbe	rs30832
MSV3d	rs30832
GWAS Ctlg	rs30832

GMAF

0.002755

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	Rs30832(G;G)
Alt	Rs30832(G;G)
Reference	Rs30832(A;A)
Significance	Non-pathogenic
Disease	not specified Diastrophic dysplasia Osteochondrodysplasia Achondrogenesis Atelosteogenesis Multiple epiphyseal dysplasia 4
Variation	info
Gene	SLC26A2
CLNDBN	not specified Diastrophic dysplasia Osteochondrodysplasia Achondrogenesis Atelosteogenesis Multiple epiphyseal dysplasia 4
Reversed	1
HGVS	NC_000005.9:g.149360877T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000176982.3, RCV000265444.1, RCV000271433.1, RCV000320835.1, RCV000360315.1, RCV000384666.1,