rs104893924

Orientation

plus

Stabilized

plus

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

Make rs104893924(A;A)

Make rs104893924(A;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149981550

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs104893924
dbSNP (classic)	rs104893924
ClinGen	rs104893924
ebi	rs104893924
HLI	rs104893924
Exac	rs104893924
Gnomad	rs104893924
Varsome	rs104893924
LitVar	rs104893924
Map	rs104893924
PheGenI	rs104893924
Biobank	rs104893924
1000 genomes	rs104893924
hgdp	rs104893924
ensembl	rs104893924
geneview	rs104893924
scholar	rs104893924
google	rs104893924
pharmgkb	rs104893924
gwascentral	rs104893924
openSNP	rs104893924
23andMe	rs104893924
SNPshot	rs104893924
SNPdbe	rs104893924
MSV3d	rs104893924
GWAS Ctlg	rs104893924

Max Magnitude

0

OMIM	606718
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104893924(A;A)
Alt	rs104893924(A;A)
Reference	Rs104893924(T;T)
Significance	Other
Disease	Multiple epiphyseal dysplasia 4 Diastrophic dysplasia not provided Atelosteogenesis type 2 Achondrogenesis
Variation	info
Gene	SLC26A2
CLNDBN	Multiple epiphyseal dysplasia 4 Diastrophic dysplasia not provided Atelosteogenesis type 2 Achondrogenesis, type IB
Reversed	0
HGVS	NC_000005.9:g.149361113T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004313.4, RCV000055760.1, RCV000224702.1, RCV000409936.1, RCV000411019.1, RCV000477884.1,