rs143607153

Orientation

plus

Stabilized

plus

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

Make rs143607153(A;T)

Make rs143607153(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

232768552

Gene	GIGYF2, KCNJ13

is a	snp
is	mentioned by
dbSNP	rs143607153
dbSNP (classic)	rs143607153
ClinGen	rs143607153
ebi	rs143607153
HLI	rs143607153
Exac	rs143607153
Gnomad	rs143607153
Varsome	rs143607153
LitVar	rs143607153
Map	rs143607153
PheGenI	rs143607153
Biobank	rs143607153
1000 genomes	rs143607153
hgdp	rs143607153
ensembl	rs143607153
geneview	rs143607153
scholar	rs143607153
google	rs143607153
pharmgkb	rs143607153
gwascentral	rs143607153
openSNP	rs143607153
23andMe	rs143607153
SNPshot	rs143607153
SNPdbe	rs143607153
MSV3d	rs143607153
GWAS Ctlg	rs143607153

Max Magnitude

0

ClinVar
Risk	rs143607153(G;G) rs143607153(T;T)
Alt	rs143607153(G;G) rs143607153(T;T)
Reference	Rs143607153(A;A)
Significance	Pathogenic
Disease	Leber congenital amaurosis 16
Variation	info
Gene	GIGYF2 LOC101928854 KCNJ13
CLNDBN	Leber congenital amaurosis 16
Reversed	0
HGVS	NC_000002.11:g.233633262A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023267.2,