rs1057517461

Orientation

plus

Stabilized

plus

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

Make rs1057517461(C;C)

Make rs1057517461(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149978353

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517461
dbSNP (classic)	rs1057517461
ClinGen	rs1057517461
ebi	rs1057517461
HLI	rs1057517461
Exac	rs1057517461
Gnomad	rs1057517461
Varsome	rs1057517461
LitVar	rs1057517461
Map	rs1057517461
PheGenI	rs1057517461
Biobank	rs1057517461
1000 genomes	rs1057517461
hgdp	rs1057517461
ensembl	rs1057517461
geneview	rs1057517461
scholar	rs1057517461
google	rs1057517461
pharmgkb	rs1057517461
gwascentral	rs1057517461
openSNP	rs1057517461
23andMe	rs1057517461
SNPshot	rs1057517461
SNPdbe	rs1057517461
MSV3d	rs1057517461
GWAS Ctlg	rs1057517461

Max Magnitude

0

ClinVar
Risk	rs1057517461(C;C)
Alt	rs1057517461(C;C)
Reference	Rs1057517461(T;T)
Significance	Pathogenic
Disease	Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Achondrogenesis Diastrophic dysplasia
Variation	info
Gene	SLC26A2
CLNDBN	Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Achondrogenesis, type IB Diastrophic dysplasia
Reversed	0
HGVS	NC_000005.9:g.149357916T>C
CLNSRC
CLNACC	RCV000409387.1, RCV000410512.1, RCV000411619.1, RCV000411790.1,