rs79555199

Orientation

plus

Stabilized

plus

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

Make rs79555199(A;A)

Make rs79555199(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

100750707

Gene

PAX2

is a	snp
is	mentioned by
dbSNP	rs79555199
dbSNP (classic)	rs79555199
ClinGen	rs79555199
ebi	rs79555199
HLI	rs79555199
Exac	rs79555199
Gnomad	rs79555199
Varsome	rs79555199
LitVar	rs79555199
Map	rs79555199
PheGenI	rs79555199
Biobank	rs79555199
1000 genomes	rs79555199
hgdp	rs79555199
ensembl	rs79555199
geneview	rs79555199
scholar	rs79555199
google	rs79555199
pharmgkb	rs79555199
gwascentral	rs79555199
openSNP	rs79555199
23andMe	rs79555199
SNPshot	rs79555199
SNPdbe	rs79555199
MSV3d	rs79555199
GWAS Ctlg	rs79555199

Max Magnitude

0

OMIM	167409
Desc
Variant	0006
Related	also

ClinVar
Risk	rs79555199(A;A)
Alt	rs79555199(A;A)
Reference	Rs79555199(G;G)
Significance	Pathogenic
Disease	Renal coloboma syndrome
Variation	info
Gene	PAX2
CLNDBN	Renal coloboma syndrome
Reversed	0
HGVS	NC_000010.10:g.102510464G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014810.21,