rs1057519376

Orientation

plus

Stabilized

plus

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

Make rs1057519376(C;C)

Make rs1057519376(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

227257613

Gene	COL4A3, LOC654841

is a	snp
is	mentioned by
dbSNP	rs1057519376
dbSNP (classic)	rs1057519376
ClinGen	rs1057519376
ebi	rs1057519376
HLI	rs1057519376
Exac	rs1057519376
Gnomad	rs1057519376
Varsome	rs1057519376
LitVar	rs1057519376
Map	rs1057519376
PheGenI	rs1057519376
Biobank	rs1057519376
1000 genomes	rs1057519376
hgdp	rs1057519376
ensembl	rs1057519376
geneview	rs1057519376
scholar	rs1057519376
google	rs1057519376
pharmgkb	rs1057519376
gwascentral	rs1057519376
openSNP	rs1057519376
23andMe	rs1057519376
SNPshot	rs1057519376
SNPdbe	rs1057519376
MSV3d	rs1057519376
GWAS Ctlg	rs1057519376

Max Magnitude

0

ClinVar
Risk	rs1057519376(C;C)
Alt	rs1057519376(C;C)
Reference	Rs1057519376(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A3 LOC654841
CLNDBN	Alport syndrome, autosomal dominant
Reversed	0
HGVS	NC_000002.11:g.228122329G>C
CLNSRC
CLNACC	RCV000416934.1,