rs121434631

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs121434631(C;T)

Make rs121434631(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

42179248

Gene

GUCA1A

is a	snp
is	mentioned by
dbSNP	rs121434631
dbSNP (classic)	rs121434631
ClinGen	rs121434631
ebi	rs121434631
HLI	rs121434631
Exac	rs121434631
Gnomad	rs121434631
Varsome	rs121434631
LitVar	rs121434631
Map	rs121434631
PheGenI	rs121434631
Biobank	rs121434631
1000 genomes	rs121434631
hgdp	rs121434631
ensembl	rs121434631
geneview	rs121434631
scholar	rs121434631
google	rs121434631
pharmgkb	rs121434631
gwascentral	rs121434631
openSNP	rs121434631
23andMe	rs121434631
SNPshot	rs121434631
SNPdbe	rs121434631
MSV3d	rs121434631
GWAS Ctlg	rs121434631

Max Magnitude

0

OMIM	600364
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121434631(G;G) rs121434631(T;T)
Alt	rs121434631(G;G) rs121434631(T;T)
Reference	Rs121434631(C;C)
Significance	Pathogenic
Disease	Cone dystrophy 3
Variation	info
Gene	GUCA1A
CLNDBN	Cone dystrophy 3
Reversed	0
HGVS	NC_000006.11:g.42146986C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032613.3,