rs121912824

Orientation

plus

Stabilized

plus

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

Make rs121912824(C;T)

Make rs121912824(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

227307898

Gene	COL4A3, LOC654841

is a	snp
is	mentioned by
dbSNP	rs121912824
dbSNP (classic)	rs121912824
ClinGen	rs121912824
ebi	rs121912824
HLI	rs121912824
Exac	rs121912824
Gnomad	rs121912824
Varsome	rs121912824
LitVar	rs121912824
Map	rs121912824
PheGenI	rs121912824
Biobank	rs121912824
1000 genomes	rs121912824
hgdp	rs121912824
ensembl	rs121912824
geneview	rs121912824
scholar	rs121912824
google	rs121912824
pharmgkb	rs121912824
gwascentral	rs121912824
openSNP	rs121912824
23andMe	rs121912824
SNPshot	rs121912824
SNPdbe	rs121912824
MSV3d	rs121912824
GWAS Ctlg	rs121912824

Max Magnitude

0

OMIM	120070
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912824(T;T)
Alt	rs121912824(T;T)
Reference	Rs121912824(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A3 LOC654841
CLNDBN	Alport syndrome, autosomal recessive
Reversed	0
HGVS	NC_000002.11:g.228172614C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019036.30,

[PMID 7987301] Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.

[PMID 7987396] Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.