rs121912861

Orientation

minus

Stabilized

minus

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

Make rs121912861(C;T)

Make rs121912861(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

227022135

Gene

COL4A4

is a	snp
is	mentioned by
dbSNP	rs121912861
dbSNP (classic)	rs121912861
ClinGen	rs121912861
ebi	rs121912861
HLI	rs121912861
Exac	rs121912861
Gnomad	rs121912861
Varsome	rs121912861
LitVar	rs121912861
Map	rs121912861
PheGenI	rs121912861
Biobank	rs121912861
1000 genomes	rs121912861
hgdp	rs121912861
ensembl	rs121912861
geneview	rs121912861
scholar	rs121912861
google	rs121912861
pharmgkb	rs121912861
gwascentral	rs121912861
openSNP	rs121912861
23andMe	rs121912861
SNPshot	rs121912861
SNPdbe	rs121912861
MSV3d	rs121912861
GWAS Ctlg	rs121912861

Max Magnitude

0

OMIM	120131
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912861(T;T)
Alt	rs121912861(T;T)
Reference	Rs121912861(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A4
CLNDBN	Alport syndrome, autosomal recessive
Reversed	1
HGVS	NC_000002.11:g.227886851G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018950.27,