rs104893918

Orientation

plus

Stabilized

plus

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

Make rs104893918(C;T)

Make rs104893918(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149981737

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs104893918
dbSNP (classic)	rs104893918
ClinGen	rs104893918
ebi	rs104893918
HLI	rs104893918
Exac	rs104893918
Gnomad	rs104893918
Varsome	rs104893918
LitVar	rs104893918
Map	rs104893918
PheGenI	rs104893918
Biobank	rs104893918
1000 genomes	rs104893918
hgdp	rs104893918
ensembl	rs104893918
geneview	rs104893918
scholar	rs104893918
google	rs104893918
pharmgkb	rs104893918
gwascentral	rs104893918
openSNP	rs104893918
23andMe	rs104893918
SNPshot	rs104893918
SNPdbe	rs104893918
MSV3d	rs104893918
GWAS Ctlg	rs104893918

Max Magnitude

0

OMIM	606718
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104893918(T;T)
Alt	rs104893918(T;T)
Reference	Rs104893918(C;C)
Significance	Pathogenic
Disease	Atelosteogenesis type 2
Variation	info
Gene	SLC26A2
CLNDBN	Atelosteogenesis type 2
Reversed	0
HGVS	NC_000005.9:g.149361300C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004309.3,