rs1057517524

Orientation

plus

Stabilized

plus

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

Make rs1057517524(-;-)

Make rs1057517524(-;GTCT)

Make rs1057517524(GTCT;GTCT)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149980329

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517524
dbSNP (classic)	rs1057517524
ClinGen	rs1057517524
ebi	rs1057517524
HLI	rs1057517524
Exac	rs1057517524
Gnomad	rs1057517524
Varsome	rs1057517524
LitVar	rs1057517524
Map	rs1057517524
PheGenI	rs1057517524
Biobank	rs1057517524
1000 genomes	rs1057517524
hgdp	rs1057517524
ensembl	rs1057517524
geneview	rs1057517524
scholar	rs1057517524
google	rs1057517524
pharmgkb	rs1057517524
gwascentral	rs1057517524
openSNP	rs1057517524
23andMe	rs1057517524
SNPshot	rs1057517524
SNPdbe	rs1057517524
MSV3d	rs1057517524
GWAS Ctlg	rs1057517524

Max Magnitude

0

ClinVar
Risk	rs1057517524(-;-)
Alt	rs1057517524(-;-)
Reference	Rs1057517524(TCTG;TCTG)
Significance	Probable-Pathogenic
Disease	Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis
Variation	info
Gene	SLC26A2
CLNDBN	Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis, type IB
Reversed	0
HGVS	NC_000005.9:g.149359892_149359895delGTCT
CLNSRC
CLNACC	RCV000409205.1, RCV000410335.1, RCV000411172.1, RCV000411764.1,