rs869320697

Orientation

plus

Stabilized

plus

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

Make rs869320697(A;A)

Make rs869320697(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

5

Position

138827575

Gene

CTNNA1

is a	snp
is	mentioned by
dbSNP	rs869320697
dbSNP (classic)	rs869320697
ClinGen	rs869320697
ebi	rs869320697
HLI	rs869320697
Exac	rs869320697
Gnomad	rs869320697
Varsome	rs869320697
LitVar	rs869320697
Map	rs869320697
PheGenI	rs869320697
Biobank	rs869320697
1000 genomes	rs869320697
hgdp	rs869320697
ensembl	rs869320697
geneview	rs869320697
scholar	rs869320697
google	rs869320697
pharmgkb	rs869320697
gwascentral	rs869320697
openSNP	rs869320697
23andMe	rs869320697
SNPshot	rs869320697
SNPdbe	rs869320697
MSV3d	rs869320697
GWAS Ctlg	rs869320697

Max Magnitude

0

ClinVar
Risk	rs869320697(A;A)
Alt	rs869320697(A;A)
Reference	Rs869320697(G;G)
Significance	Pathogenic
Disease	Macular dystrophy
Variation	info
Gene	CTNNA1
CLNDBN	Macular dystrophy, patterned, 2
Reversed	0
HGVS	NC_000005.9:g.138163264G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210750.1,