rs121912827

Orientation

plus

Stabilized

plus

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

Make rs121912827(G;T)

Make rs121912827(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

227289222

Gene	COL4A3, LOC654841

is a	snp
is	mentioned by
dbSNP	rs121912827
dbSNP (classic)	rs121912827
ClinGen	rs121912827
ebi	rs121912827
HLI	rs121912827
Exac	rs121912827
Gnomad	rs121912827
Varsome	rs121912827
LitVar	rs121912827
Map	rs121912827
PheGenI	rs121912827
Biobank	rs121912827
1000 genomes	rs121912827
hgdp	rs121912827
ensembl	rs121912827
geneview	rs121912827
scholar	rs121912827
google	rs121912827
pharmgkb	rs121912827
gwascentral	rs121912827
openSNP	rs121912827
23andMe	rs121912827
SNPshot	rs121912827
SNPdbe	rs121912827
MSV3d	rs121912827
GWAS Ctlg	rs121912827

Max Magnitude

0

OMIM	120070
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121912827(A;A) rs121912827(T;T)
Alt	rs121912827(A;A) rs121912827(T;T)
Reference	Rs121912827(G;G)
Significance	Pathogenic
Disease	Benign familial hematuria not specified
Variation	info
Gene	COL4A3 LOC654841
CLNDBN	Benign familial hematuria not specified
Reversed	0
HGVS	NC_000002.11:g.228153938G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019042.28, RCV000485138.1,

[PMID 11961012] Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.