rs200287952

Orientation

plus

Stabilized

plus

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

Make rs200287952(A;A)

Make rs200287952(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

227277511

Gene	COL4A3, LOC654841

is a	snp
is	mentioned by
dbSNP	rs200287952
dbSNP (classic)	rs200287952
ClinGen	rs200287952
ebi	rs200287952
HLI	rs200287952
Exac	rs200287952
Gnomad	rs200287952
Varsome	rs200287952
LitVar	rs200287952
Map	rs200287952
PheGenI	rs200287952
Biobank	rs200287952
1000 genomes	rs200287952
hgdp	rs200287952
ensembl	rs200287952
geneview	rs200287952
scholar	rs200287952
google	rs200287952
pharmgkb	rs200287952
gwascentral	rs200287952
openSNP	rs200287952
23andMe	rs200287952
SNPshot	rs200287952
SNPdbe	rs200287952
MSV3d	rs200287952
GWAS Ctlg	rs200287952

Max Magnitude

0

ClinVar
Risk	rs200287952(A;A)
Alt	rs200287952(A;A)
Reference	Rs200287952(G;G)
Significance	Probable-Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A3 LOC654841
CLNDBN	Alport syndrome, autosomal dominant
Reversed	0
HGVS	NC_000002.11:g.228142227G>A
CLNSRC
CLNACC	RCV000408794.1,