rs121912860

Orientation

minus

Stabilized

minus

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

Make rs121912860(A;A)

Make rs121912860(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

227055971

Gene

COL4A4

is a	snp
is	mentioned by
dbSNP	rs121912860
dbSNP (classic)	rs121912860
ClinGen	rs121912860
ebi	rs121912860
HLI	rs121912860
Exac	rs121912860
Gnomad	rs121912860
Varsome	rs121912860
LitVar	rs121912860
Map	rs121912860
PheGenI	rs121912860
Biobank	rs121912860
1000 genomes	rs121912860
hgdp	rs121912860
ensembl	rs121912860
geneview	rs121912860
scholar	rs121912860
google	rs121912860
pharmgkb	rs121912860
gwascentral	rs121912860
openSNP	rs121912860
23andMe	rs121912860
SNPshot	rs121912860
SNPdbe	rs121912860
MSV3d	rs121912860
GWAS Ctlg	rs121912860

Max Magnitude

0

OMIM	120131
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912860(A;A)
Alt	rs121912860(A;A)
Reference	Rs121912860(G;G)
Significance	Pathogenic
Disease	Benign familial hematuria
Variation	info
Gene	COL4A4
CLNDBN	Benign familial hematuria
Reversed	1
HGVS	NC_000002.11:g.227920687C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018949.23,