rs104893916

Orientation

plus

Stabilized

plus

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

Make rs104893916(G;T)

Make rs104893916(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149981626

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs104893916
dbSNP (classic)	rs104893916
ClinGen	rs104893916
ebi	rs104893916
HLI	rs104893916
Exac	rs104893916
Gnomad	rs104893916
Varsome	rs104893916
LitVar	rs104893916
Map	rs104893916
PheGenI	rs104893916
Biobank	rs104893916
1000 genomes	rs104893916
hgdp	rs104893916
ensembl	rs104893916
geneview	rs104893916
scholar	rs104893916
google	rs104893916
pharmgkb	rs104893916
gwascentral	rs104893916
openSNP	rs104893916
23andMe	rs104893916
SNPshot	rs104893916
SNPdbe	rs104893916
MSV3d	rs104893916
GWAS Ctlg	rs104893916

Max Magnitude

0

OMIM	606718
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104893916(T;T)
Alt	rs104893916(T;T)
Reference	Rs104893916(G;G)
Significance	Pathogenic
Disease	Achondrogenesis Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Variation	info
Gene	SLC26A2
CLNDBN	Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Reversed	0
HGVS	NC_000005.9:g.149361189G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023570.3, RCV000055761.1, RCV000169017.1,