rs121912862

Orientation

minus

Stabilized

minus

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

Make rs121912862(A;A)

Make rs121912862(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

227007475

Gene

COL4A4

is a	snp
is	mentioned by
dbSNP	rs121912862
dbSNP (classic)	rs121912862
ClinGen	rs121912862
ebi	rs121912862
HLI	rs121912862
Exac	rs121912862
Gnomad	rs121912862
Varsome	rs121912862
LitVar	rs121912862
Map	rs121912862
PheGenI	rs121912862
Biobank	rs121912862
1000 genomes	rs121912862
hgdp	rs121912862
ensembl	rs121912862
geneview	rs121912862
scholar	rs121912862
google	rs121912862
pharmgkb	rs121912862
gwascentral	rs121912862
openSNP	rs121912862
23andMe	rs121912862
SNPshot	rs121912862
SNPdbe	rs121912862
MSV3d	rs121912862
GWAS Ctlg	rs121912862

Max Magnitude

0

OMIM	120131
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912862(A;A)
Alt	rs121912862(A;A)
Reference	Rs121912862(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A4
CLNDBN	Alport syndrome, autosomal recessive
Reversed	1
HGVS	NC_000002.11:g.227872191G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018951.27,