rs121912858

Orientation

minus

Stabilized

minus

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

Make rs121912858(A;A)

Make rs121912858(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

227032253

Gene

COL4A4

is a	snp
is	mentioned by
dbSNP	rs121912858
dbSNP (classic)	rs121912858
ClinGen	rs121912858
ebi	rs121912858
HLI	rs121912858
Exac	rs121912858
Gnomad	rs121912858
Varsome	rs121912858
LitVar	rs121912858
Map	rs121912858
PheGenI	rs121912858
Biobank	rs121912858
1000 genomes	rs121912858
hgdp	rs121912858
ensembl	rs121912858
geneview	rs121912858
scholar	rs121912858
google	rs121912858
pharmgkb	rs121912858
gwascentral	rs121912858
openSNP	rs121912858
23andMe	rs121912858
SNPshot	rs121912858
SNPdbe	rs121912858
MSV3d	rs121912858
GWAS Ctlg	rs121912858

Max Magnitude

0

OMIM	120131
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912858(A;A)
Alt	rs121912858(A;A)
Reference	Rs121912858(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A4
CLNDBN	Alport syndrome, autosomal recessive
Reversed	1
HGVS	NC_000002.11:g.227896969C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018947.28,