rs121912863

Orientation

minus

Stabilized

minus

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

Make rs121912863(C;T)

Make rs121912863(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

227008112

Gene

COL4A4

is a	snp
is	mentioned by
dbSNP	rs121912863
dbSNP (classic)	rs121912863
ClinGen	rs121912863
ebi	rs121912863
HLI	rs121912863
Exac	rs121912863
Gnomad	rs121912863
Varsome	rs121912863
LitVar	rs121912863
Map	rs121912863
PheGenI	rs121912863
Biobank	rs121912863
1000 genomes	rs121912863
hgdp	rs121912863
ensembl	rs121912863
geneview	rs121912863
scholar	rs121912863
google	rs121912863
pharmgkb	rs121912863
gwascentral	rs121912863
openSNP	rs121912863
23andMe	rs121912863
SNPshot	rs121912863
SNPdbe	rs121912863
MSV3d	rs121912863
GWAS Ctlg	rs121912863

Max Magnitude

0

OMIM	120131
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121912863(T;T)
Alt	rs121912863(T;T)
Reference	Rs121912863(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A4
CLNDBN	Alport syndrome, autosomal recessive
Reversed	1
HGVS	NC_000002.11:g.227872828G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018952.27,