rs1057516204

Orientation

plus

Stabilized

plus

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

Make rs1057516204(-;-)

Make rs1057516204(-;AAAG)

Make rs1057516204(AAAG;AAAG)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

227293224

Gene	COL4A3, LOC654841

is a	snp
is	mentioned by
dbSNP	rs1057516204
dbSNP (classic)	rs1057516204
ClinGen	rs1057516204
ebi	rs1057516204
HLI	rs1057516204
Exac	rs1057516204
Gnomad	rs1057516204
Varsome	rs1057516204
LitVar	rs1057516204
Map	rs1057516204
PheGenI	rs1057516204
Biobank	rs1057516204
1000 genomes	rs1057516204
hgdp	rs1057516204
ensembl	rs1057516204
geneview	rs1057516204
scholar	rs1057516204
google	rs1057516204
pharmgkb	rs1057516204
gwascentral	rs1057516204
openSNP	rs1057516204
23andMe	rs1057516204
SNPshot	rs1057516204
SNPdbe	rs1057516204
MSV3d	rs1057516204
GWAS Ctlg	rs1057516204

Max Magnitude

0

ClinVar
Risk	rs1057516204(-;-)
Alt	rs1057516204(-;-)
Reference	Rs1057516204(GAAA;GAAA)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A3 LOC654841
CLNDBN	Alport syndrome, autosomal dominant
Reversed	0
HGVS	NC_000002.11:g.228157940_228157943delAAAG
CLNSRC
CLNACC	RCV000408858.1,