rs1060499654

Orientation

plus

Stabilized

plus

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

Make rs1060499654(C;T)

Make rs1060499654(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

227280587

Gene	COL4A3, LOC654841

is a	snp
is	mentioned by
dbSNP	rs1060499654
dbSNP (classic)	rs1060499654
ClinGen	rs1060499654
ebi	rs1060499654
HLI	rs1060499654
Exac	rs1060499654
Gnomad	rs1060499654
Varsome	rs1060499654
LitVar	rs1060499654
Map	rs1060499654
PheGenI	rs1060499654
Biobank	rs1060499654
1000 genomes	rs1060499654
hgdp	rs1060499654
ensembl	rs1060499654
geneview	rs1060499654
scholar	rs1060499654
google	rs1060499654
pharmgkb	rs1060499654
gwascentral	rs1060499654
openSNP	rs1060499654
23andMe	rs1060499654
SNPshot	rs1060499654
SNPdbe	rs1060499654
MSV3d	rs1060499654
GWAS Ctlg	rs1060499654

Max Magnitude

0

ClinVar
Risk	rs1060499654(T;T)
Alt	rs1060499654(T;T)
Reference	Rs1060499654(C;C)
Significance	Probable-Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A3 LOC654841
CLNDBN	Alport syndrome, autosomal recessive
Reversed	0
HGVS	NC_000002.11:g.228145303C>T
CLNSRC
CLNACC	RCV000449569.1,