rs1057517504

Orientation

plus

Stabilized

plus

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

Make rs1057517504(-;GCAGT)

Make rs1057517504(GCAGT;GCAGT)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149977895

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517504
dbSNP (classic)	rs1057517504
ClinGen	rs1057517504
ebi	rs1057517504
HLI	rs1057517504
Exac	rs1057517504
Gnomad	rs1057517504
Varsome	rs1057517504
LitVar	rs1057517504
Map	rs1057517504
PheGenI	rs1057517504
Biobank	rs1057517504
1000 genomes	rs1057517504
hgdp	rs1057517504
ensembl	rs1057517504
geneview	rs1057517504
scholar	rs1057517504
google	rs1057517504
pharmgkb	rs1057517504
gwascentral	rs1057517504
openSNP	rs1057517504
23andMe	rs1057517504
SNPshot	rs1057517504
SNPdbe	rs1057517504
MSV3d	rs1057517504
GWAS Ctlg	rs1057517504

Max Magnitude

0

ClinVar
Risk	rs1057517504(CAGTG;CAGTG)
Alt	rs1057517504(CAGTG;CAGTG)
Reference	Rs1057517504(-;-)
Significance	Probable-Pathogenic
Disease	Diastrophic dysplasia Achondrogenesis Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2
Variation	info
Gene	SLC26A2
CLNDBN	Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2
Reversed	0
HGVS	NC_000005.9:g.149357454_149357458dupGCAGT
CLNSRC
CLNACC	RCV000409029.1, RCV000409666.1, RCV000410521.1, RCV000411597.1,