rs281874662

Orientation

plus

Stabilized

plus

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

Make rs281874662(A;T)

Make rs281874662(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108591114

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874662
dbSNP (classic)	rs281874662
ClinGen	rs281874662
ebi	rs281874662
HLI	rs281874662
Exac	rs281874662
Gnomad	rs281874662
Varsome	rs281874662
LitVar	rs281874662
Map	rs281874662
PheGenI	rs281874662
Biobank	rs281874662
1000 genomes	rs281874662
hgdp	rs281874662
ensembl	rs281874662
geneview	rs281874662
scholar	rs281874662
google	rs281874662
pharmgkb	rs281874662
gwascentral	rs281874662
openSNP	rs281874662
23andMe	rs281874662
SNPshot	rs281874662
SNPdbe	rs281874662
MSV3d	rs281874662
GWAS Ctlg	rs281874662

Max Magnitude

0

ClinVar
Risk	rs281874662(T;T)
Alt	rs281874662(T;T)
Reference	Rs281874662(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107834344A>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021264.1,

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