rs869320721

Orientation

minus

Stabilized

minus

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

Make rs869320721(-;-)

Make rs869320721(-;GCTTCGCC)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

3234174

Gene

SLC4A11

is a	snp
is	mentioned by
dbSNP	rs869320721
dbSNP (classic)	rs869320721
ClinGen	rs869320721
ebi	rs869320721
HLI	rs869320721
Exac	rs869320721
Gnomad	rs869320721
Varsome	rs869320721
LitVar	rs869320721
Map	rs869320721
PheGenI	rs869320721
Biobank	rs869320721
1000 genomes	rs869320721
hgdp	rs869320721
ensembl	rs869320721
geneview	rs869320721
scholar	rs869320721
google	rs869320721
pharmgkb	rs869320721
gwascentral	rs869320721
openSNP	rs869320721
23andMe	rs869320721
SNPshot	rs869320721
SNPdbe	rs869320721
MSV3d	rs869320721
GWAS Ctlg	rs869320721

Max Magnitude

0

ClinVar
Risk	rs869320721(-;-)
Alt	rs869320721(-;-)
Reference	Rs869320721(GCTTCGCC;GCTTCGCC)
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.3214820_3214827delGGCGAAGC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001375.4,