rs1057517511

Orientation

plus

Stabilized

plus

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

Make rs1057517511(-;GTTAT)

Make rs1057517511(GTTAT;GTTAT)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149981134

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517511
dbSNP (classic)	rs1057517511
ClinGen	rs1057517511
ebi	rs1057517511
HLI	rs1057517511
Exac	rs1057517511
Gnomad	rs1057517511
Varsome	rs1057517511
LitVar	rs1057517511
Map	rs1057517511
PheGenI	rs1057517511
Biobank	rs1057517511
1000 genomes	rs1057517511
hgdp	rs1057517511
ensembl	rs1057517511
geneview	rs1057517511
scholar	rs1057517511
google	rs1057517511
pharmgkb	rs1057517511
gwascentral	rs1057517511
openSNP	rs1057517511
23andMe	rs1057517511
SNPshot	rs1057517511
SNPdbe	rs1057517511
MSV3d	rs1057517511
GWAS Ctlg	rs1057517511

Max Magnitude

0

ClinVar
Risk	rs1057517511(GTTAT;GTTAT)
Alt	rs1057517511(GTTAT;GTTAT)
Reference	Rs1057517511(-;-)
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.149360693_149360697dupGTTAT
CLNSRC
CLNACC	RCV000409678.1, RCV000409864.1, RCV000410828.1, RCV000412349.1,