rs387906530

Orientation

plus

Stabilized

plus

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

Make rs387906530(-;GAGACC)

Make rs387906530(GAGACC;GAGACC)

Reference

GRCh38 38.1/142

Chromosome

10

Position

100750706

Gene

PAX2

is a	snp
is	mentioned by
dbSNP	rs387906530
dbSNP (classic)	rs387906530
ClinGen	rs387906530
ebi	rs387906530
HLI	rs387906530
Exac	rs387906530
Gnomad	rs387906530
Varsome	rs387906530
LitVar	rs387906530
Map	rs387906530
PheGenI	rs387906530
Biobank	rs387906530
1000 genomes	rs387906530
hgdp	rs387906530
ensembl	rs387906530
geneview	rs387906530
scholar	rs387906530
google	rs387906530
pharmgkb	rs387906530
gwascentral	rs387906530
openSNP	rs387906530
23andMe	rs387906530
SNPshot	rs387906530
SNPdbe	rs387906530
MSV3d	rs387906530
GWAS Ctlg	rs387906530

Max Magnitude

0

ClinVar
Risk	rs387906530(CGAGAC;CGAGAC)
Alt	rs387906530(CGAGAC;CGAGAC)
Reference	Rs387906530(-;-)
Significance	Pathogenic
Disease	Renal coloboma syndrome
Variation	info
Gene	PAX2
CLNDBN	Renal coloboma syndrome
Reversed	0
HGVS	NC_000010.10:g.102510459_102510464dupAGACCG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014811.23,