rs121912859

Orientation

minus

Stabilized

minus

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

Make rs121912859(A;A)

Make rs121912859(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

227032049

Gene

COL4A4

is a	snp
is	mentioned by
dbSNP	rs121912859
dbSNP (classic)	rs121912859
ClinGen	rs121912859
ebi	rs121912859
HLI	rs121912859
Exac	rs121912859
Gnomad	rs121912859
Varsome	rs121912859
LitVar	rs121912859
Map	rs121912859
PheGenI	rs121912859
Biobank	rs121912859
1000 genomes	rs121912859
hgdp	rs121912859
ensembl	rs121912859
geneview	rs121912859
scholar	rs121912859
google	rs121912859
pharmgkb	rs121912859
gwascentral	rs121912859
openSNP	rs121912859
23andMe	rs121912859
SNPshot	rs121912859
SNPdbe	rs121912859
MSV3d	rs121912859
GWAS Ctlg	rs121912859

Max Magnitude

0

OMIM	120131
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912859(A;A)
Alt	rs121912859(A;A)
Reference	Rs121912859(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A4
CLNDBN	Alport syndrome, autosomal recessive
Reversed	1
HGVS	NC_000002.11:g.227896765G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018948.28,