rs1057519377

Orientation

plus

Stabilized

plus

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

Make rs1057519377(A;T)

Make rs1057519377(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

227308910

Gene	COL4A3, LOC654841

is a	snp
is	mentioned by
dbSNP	rs1057519377
dbSNP (classic)	rs1057519377
ClinGen	rs1057519377
ebi	rs1057519377
HLI	rs1057519377
Exac	rs1057519377
Gnomad	rs1057519377
Varsome	rs1057519377
LitVar	rs1057519377
Map	rs1057519377
PheGenI	rs1057519377
Biobank	rs1057519377
1000 genomes	rs1057519377
hgdp	rs1057519377
ensembl	rs1057519377
geneview	rs1057519377
scholar	rs1057519377
google	rs1057519377
pharmgkb	rs1057519377
gwascentral	rs1057519377
openSNP	rs1057519377
23andMe	rs1057519377
SNPshot	rs1057519377
SNPdbe	rs1057519377
MSV3d	rs1057519377
GWAS Ctlg	rs1057519377

Max Magnitude

0

ClinVar
Risk	rs1057519377(T;T)
Alt	rs1057519377(T;T)
Reference	Rs1057519377(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A3 LOC654841
CLNDBN	Alport syndrome, autosomal dominant
Reversed	0
HGVS	NC_000002.11:g.228173626A>T
CLNSRC
CLNACC	RCV000416827.1,