rs281874679

Orientation

plus

Stabilized

plus

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

Make rs281874679(C;C)

Make rs281874679(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108597571

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874679
dbSNP (classic)	rs281874679
ClinGen	rs281874679
ebi	rs281874679
HLI	rs281874679
Exac	rs281874679
Gnomad	rs281874679
Varsome	rs281874679
LitVar	rs281874679
Map	rs281874679
PheGenI	rs281874679
Biobank	rs281874679
1000 genomes	rs281874679
hgdp	rs281874679
ensembl	rs281874679
geneview	rs281874679
scholar	rs281874679
google	rs281874679
pharmgkb	rs281874679
gwascentral	rs281874679
openSNP	rs281874679
23andMe	rs281874679
SNPshot	rs281874679
SNPdbe	rs281874679
MSV3d	rs281874679
GWAS Ctlg	rs281874679

Max Magnitude

0

ClinVar
Risk	rs281874679(C;C)
Alt	rs281874679(C;C)
Reference	Rs281874679(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107840801G>C
CLNSRC	ARUP COL4A5
CLNACC	RCV000021325.1,

[PMID 20378821] Genotype-phenotype correlation in X-linked Alport syndrome.