rs869320722

Orientation

minus

Stabilized

minus

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

Make rs869320722(A;A)

Make rs869320722(A;TACG)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

3230597

Gene

SLC4A11

is a	snp
is	mentioned by
dbSNP	rs869320722
dbSNP (classic)	rs869320722
ClinGen	rs869320722
ebi	rs869320722
HLI	rs869320722
Exac	rs869320722
Gnomad	rs869320722
Varsome	rs869320722
LitVar	rs869320722
Map	rs869320722
PheGenI	rs869320722
Biobank	rs869320722
1000 genomes	rs869320722
hgdp	rs869320722
ensembl	rs869320722
geneview	rs869320722
scholar	rs869320722
google	rs869320722
pharmgkb	rs869320722
gwascentral	rs869320722
openSNP	rs869320722
23andMe	rs869320722
SNPshot	rs869320722
SNPdbe	rs869320722
MSV3d	rs869320722
GWAS Ctlg	rs869320722

Max Magnitude

0

ClinVar
Risk	rs869320722(A;A)
Alt	rs869320722(A;A)
Reference	Rs869320722(TACG;TACG)
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.3211243_3211246delCGTAinsT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001376.4,