rs121909393

Orientation

minus

Stabilized

minus

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

Make rs121909393(A;A)

Make rs121909393(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

3230515

Gene

SLC4A11

is a	snp
is	mentioned by
dbSNP	rs121909393
dbSNP (classic)	rs121909393
ClinGen	rs121909393
ebi	rs121909393
HLI	rs121909393
Exac	rs121909393
Gnomad	rs121909393
Varsome	rs121909393
LitVar	rs121909393
Map	rs121909393
PheGenI	rs121909393
Biobank	rs121909393
1000 genomes	rs121909393
hgdp	rs121909393
ensembl	rs121909393
geneview	rs121909393
scholar	rs121909393
google	rs121909393
pharmgkb	rs121909393
gwascentral	rs121909393
openSNP	rs121909393
23andMe	rs121909393
SNPshot	rs121909393
SNPdbe	rs121909393
MSV3d	rs121909393
GWAS Ctlg	rs121909393

Max Magnitude

0

OMIM	610206
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121909393(A;A)
Alt	rs121909393(A;A)
Reference	Rs121909393(G;G)
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.3211161C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001377.4,