rs76675173

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CTGGCCCACCAGGGTGTGCGGC;CTGGCCCACCAGGGTGTGCGGC)	0	common in clinvar
(GCTGGCCCACCAGGGTGTGCGGCC;GCTGGCCCACCAGGGTGTGCGGCC)	0	common in clinvar
(I;I)	0	common genotype

Make rs76675173(-;-)

Make rs76675173(-;CTGGCCCACCAGGGTGTGCGGC)

Reference

GRCh38 38.1/141

Chromosome

10

Position

100749832

Gene

PAX2

is a	snp
is	mentioned by
dbSNP	rs76675173
dbSNP (classic)	rs76675173
ClinGen	rs76675173
ebi	rs76675173
HLI	rs76675173
Exac	rs76675173
Gnomad	rs76675173
Varsome	rs76675173
LitVar	rs76675173
Map	rs76675173
PheGenI	rs76675173
Biobank	rs76675173
1000 genomes	rs76675173
hgdp	rs76675173
ensembl	rs76675173
geneview	rs76675173
scholar	rs76675173
google	rs76675173
pharmgkb	rs76675173
gwascentral	rs76675173
openSNP	rs76675173
23andMe	rs76675173
SNPshot	rs76675173
SNPdbe	rs76675173
MSV3d	rs76675173
GWAS Ctlg	rs76675173

Max Magnitude

0

OMIM	167409
Desc
Variant	0003
Related	also

ClinVar
Risk	rs76675173(-;-)
Alt	rs76675173(-;-)
Reference	Rs76675173(CTGGCCCACCAGGGTGTGCGGC;CTGGCCCACCAGGGTGTGCGGC)
Significance	Pathogenic
Disease	Renal coloboma syndrome
Variation	info
Gene	PAX2
CLNDBN	Renal coloboma syndrome
Reversed	0
HGVS	NC_000010.10:g.102509589_102509610del22
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014808.21,