rs121908077

Orientation

plus

Stabilized

plus

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

Make rs121908077(-;-)

Make rs121908077(-;GTT)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149980611

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs121908077
dbSNP (classic)	rs121908077
ClinGen	rs121908077
ebi	rs121908077
HLI	rs121908077
Exac	rs121908077
Gnomad	rs121908077
Varsome	rs121908077
LitVar	rs121908077
Map	rs121908077
PheGenI	rs121908077
Biobank	rs121908077
1000 genomes	rs121908077
hgdp	rs121908077
ensembl	rs121908077
geneview	rs121908077
scholar	rs121908077
google	rs121908077
pharmgkb	rs121908077
gwascentral	rs121908077
openSNP	rs121908077
23andMe	rs121908077
SNPshot	rs121908077
SNPdbe	rs121908077
MSV3d	rs121908077
GWAS Ctlg	rs121908077

Merged from

Rs606231232

Max Magnitude

0

OMIM	606718
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121908077(-;-) rs121908077(TGT;TGT) Rs121908077(TTG;TTG)
Alt	rs121908077(-;-) rs121908077(TGT;TGT) Rs121908077(TTG;TTG)
Reference	Rs121908077(GTT;GTT)
Significance	Pathogenic
Disease	Achondrogenesis Diastrophic dysplasia Multiple epiphyseal dysplasia 4 not provided
Variation	info
Gene	SLC26A2
CLNDBN	Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia 4 not provided
Reversed	0
HGVS	NC_000005.9:g.149360176_149360178delTGT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023571.4, RCV000055756.1, RCV000169159.1, RCV000355352.1,