rs121909394

Orientation

minus

Stabilized

minus

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

Make rs121909394(C;C)

Make rs121909394(C;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

3228337

Gene

SLC4A11

is a	snp
is	mentioned by
dbSNP	rs121909394
dbSNP (classic)	rs121909394
ClinGen	rs121909394
ebi	rs121909394
HLI	rs121909394
Exac	rs121909394
Gnomad	rs121909394
Varsome	rs121909394
LitVar	rs121909394
Map	rs121909394
PheGenI	rs121909394
Biobank	rs121909394
1000 genomes	rs121909394
hgdp	rs121909394
ensembl	rs121909394
geneview	rs121909394
scholar	rs121909394
google	rs121909394
pharmgkb	rs121909394
gwascentral	rs121909394
openSNP	rs121909394
23andMe	rs121909394
SNPshot	rs121909394
SNPdbe	rs121909394
MSV3d	rs121909394
GWAS Ctlg	rs121909394

Max Magnitude

0

OMIM	610206
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121909394(C;C)
Alt	rs121909394(C;C)
Reference	Rs121909394(T;T)
Significance	Pathogenic
Disease	Corneal dystrophy and perceptive deafness
Variation	info
Gene	SLC4A11
CLNDBN	Corneal dystrophy and perceptive deafness
Reversed	1
HGVS	NC_000020.10:g.3208983A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001379.4,