rs104893920

Orientation

plus

Stabilized

plus

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

Make rs104893920(A;G)

Make rs104893920(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149980866

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs104893920
dbSNP (classic)	rs104893920
ClinGen	rs104893920
ebi	rs104893920
HLI	rs104893920
Exac	rs104893920
Gnomad	rs104893920
Varsome	rs104893920
LitVar	rs104893920
Map	rs104893920
PheGenI	rs104893920
Biobank	rs104893920
1000 genomes	rs104893920
hgdp	rs104893920
ensembl	rs104893920
geneview	rs104893920
scholar	rs104893920
google	rs104893920
pharmgkb	rs104893920
gwascentral	rs104893920
openSNP	rs104893920
23andMe	rs104893920
SNPshot	rs104893920
SNPdbe	rs104893920
MSV3d	rs104893920
GWAS Ctlg	rs104893920

Max Magnitude

0

OMIM	606718
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104893920(G;G)
Alt	rs104893920(G;G)
Reference	Rs104893920(A;A)
Significance	Pathogenic
Disease	Achondrogenesis Diastrophic dysplasia
Variation	info
Gene	SLC26A2
CLNDBN	Achondrogenesis, type IB Diastrophic dysplasia
Reversed	0
HGVS	NC_000005.9:g.149360429A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023569.3, RCV000055757.1,