rs1057517483

Orientation

plus

Stabilized

plus

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

Make rs1057517483(C;T)

Make rs1057517483(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149978193

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517483
dbSNP (classic)	rs1057517483
ClinGen	rs1057517483
ebi	rs1057517483
HLI	rs1057517483
Exac	rs1057517483
Gnomad	rs1057517483
Varsome	rs1057517483
LitVar	rs1057517483
Map	rs1057517483
PheGenI	rs1057517483
Biobank	rs1057517483
1000 genomes	rs1057517483
hgdp	rs1057517483
ensembl	rs1057517483
geneview	rs1057517483
scholar	rs1057517483
google	rs1057517483
pharmgkb	rs1057517483
gwascentral	rs1057517483
openSNP	rs1057517483
23andMe	rs1057517483
SNPshot	rs1057517483
SNPdbe	rs1057517483
MSV3d	rs1057517483
GWAS Ctlg	rs1057517483

Max Magnitude

0

ClinVar
Risk	rs1057517483(T;T)
Alt	rs1057517483(T;T)
Reference	Rs1057517483(C;C)
Significance	Probable-Pathogenic
Disease	Achondrogenesis Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Diastrophic dysplasia
Variation	info
Gene	SLC26A2
CLNDBN	Achondrogenesis, type IB Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Diastrophic dysplasia
Reversed	0
HGVS	NC_000005.9:g.149357756C>T
CLNSRC
CLNACC	RCV000409182.1, RCV000410110.1, RCV000411159.1, RCV000412066.1,