rs104894170

Orientation

plus

Stabilized

plus

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

Make rs104894170(C;C)

Make rs104894170(C;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

100749914

Gene

PAX2

is a	snp
is	mentioned by
dbSNP	rs104894170
dbSNP (classic)	rs104894170
ClinGen	rs104894170
ebi	rs104894170
HLI	rs104894170
Exac	rs104894170
Gnomad	rs104894170
Varsome	rs104894170
LitVar	rs104894170
Map	rs104894170
PheGenI	rs104894170
Biobank	rs104894170
1000 genomes	rs104894170
hgdp	rs104894170
ensembl	rs104894170
geneview	rs104894170
scholar	rs104894170
google	rs104894170
pharmgkb	rs104894170
gwascentral	rs104894170
openSNP	rs104894170
23andMe	rs104894170
SNPshot	rs104894170
SNPdbe	rs104894170
MSV3d	rs104894170
GWAS Ctlg	rs104894170

Max Magnitude

0

OMIM	167409
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104894170(C;C)
Alt	rs104894170(C;C)
Reference	Rs104894170(G;G)
Significance	Pathogenic
Disease	Papillorenal syndrome with macular abnormalities
Variation	info
Gene	PAX2
CLNDBN	Papillorenal syndrome with macular abnormalities
Reversed	0
HGVS	NC_000010.10:g.102509671G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014816.21,