rs606231232

Merged into

rs121908077

Orientation

plus

Stabilized

plus

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

Make rs606231232(-;-)

Make rs606231232(-;TGT)

Make rs606231232(TGT;TGT)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

149980613

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs606231232
dbSNP (classic)	rs606231232
ClinGen	rs606231232
ebi	rs606231232
HLI	rs606231232
Exac	rs606231232
Gnomad	rs606231232
Varsome	rs606231232
LitVar	rs606231232
Map	rs606231232
PheGenI	rs606231232
Biobank	rs606231232
1000 genomes	rs606231232
hgdp	rs606231232
ensembl	rs606231232
geneview	rs606231232
scholar	rs606231232
google	rs606231232
pharmgkb	rs606231232
gwascentral	rs606231232
openSNP	rs606231232
23andMe	rs606231232
SNPshot	rs606231232
SNPdbe	rs606231232
MSV3d	rs606231232
GWAS Ctlg	rs606231232

Status

Merged into rs121908077

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs606231232(TTG;TTG)
Significance	Pathogenic
Disease	Achondrogenesis Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Variation	info
Gene	SLC26A2
CLNDBN	Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Reversed	0
HGVS	NC_000005.9:g.149360176_149360178delTGT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023571.4, RCV000055756.1, RCV000169159.1,