rs77453353

Orientation

plus

Stabilized

plus

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

Make rs77453353(-;G)

Make rs77453353(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

100749778

Gene

PAX2

is a	snp
is	mentioned by
dbSNP	rs77453353
dbSNP (classic)	rs77453353
ClinGen	rs77453353
ebi	rs77453353
HLI	rs77453353
Exac	rs77453353
Gnomad	rs77453353
Varsome	rs77453353
LitVar	rs77453353
Map	rs77453353
PheGenI	rs77453353
Biobank	rs77453353
1000 genomes	rs77453353
hgdp	rs77453353
ensembl	rs77453353
geneview	rs77453353
scholar	rs77453353
google	rs77453353
pharmgkb	rs77453353
gwascentral	rs77453353
openSNP	rs77453353
23andMe	rs77453353
SNPshot	rs77453353
SNPdbe	rs77453353
MSV3d	rs77453353
GWAS Ctlg	rs77453353

Max Magnitude

0

OMIM	167409
Desc
Variant	0002
Related	also

OMIM	167409
Desc
Variant	0009
Related	also

ClinVar
Risk	rs77453353(G;G) rs77453353(GG;GG)
Alt	rs77453353(G;G) rs77453353(GG;GG)
Reference	Rs77453353(-;-)
Significance	Pathogenic
Disease	Renal coloboma syndrome not provided
Variation	info
Gene	PAX2
CLNDBN	Renal coloboma syndrome not provided
Reversed	0
HGVS	NC_000010.10:g.102509534_102509535dupGG; NC_000010.10:g.102509535dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014813.25, RCV000014806.22, RCV000144381.1,