rs281874712

Orientation

plus

Stabilized

plus

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

Make rs281874712(G;T)

Make rs281874712(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108626309

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874712
dbSNP (classic)	rs281874712
ClinGen	rs281874712
ebi	rs281874712
HLI	rs281874712
Exac	rs281874712
Gnomad	rs281874712
Varsome	rs281874712
LitVar	rs281874712
Map	rs281874712
PheGenI	rs281874712
Biobank	rs281874712
1000 genomes	rs281874712
hgdp	rs281874712
ensembl	rs281874712
geneview	rs281874712
scholar	rs281874712
google	rs281874712
pharmgkb	rs281874712
gwascentral	rs281874712
openSNP	rs281874712
23andMe	rs281874712
SNPshot	rs281874712
SNPdbe	rs281874712
MSV3d	rs281874712
GWAS Ctlg	rs281874712

Max Magnitude

0

ClinVar
Risk	rs281874712(T;T)
Alt	rs281874712(T;T)
Reference	Rs281874712(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107869539G>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021484.1,

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