rs281874723

Orientation

plus

Stabilized

plus

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

Make rs281874723(A;A)

Make rs281874723(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108571414

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874723
dbSNP (classic)	rs281874723
ClinGen	rs281874723
ebi	rs281874723
HLI	rs281874723
Exac	rs281874723
Gnomad	rs281874723
Varsome	rs281874723
LitVar	rs281874723
Map	rs281874723
PheGenI	rs281874723
Biobank	rs281874723
1000 genomes	rs281874723
hgdp	rs281874723
ensembl	rs281874723
geneview	rs281874723
scholar	rs281874723
google	rs281874723
pharmgkb	rs281874723
gwascentral	rs281874723
openSNP	rs281874723
23andMe	rs281874723
SNPshot	rs281874723
SNPdbe	rs281874723
MSV3d	rs281874723
GWAS Ctlg	rs281874723

Max Magnitude

0

ClinVar
Risk	rs281874723(A;A) rs281874723(T;T)
Alt	rs281874723(A;A) rs281874723(T;T)
Reference	Rs281874723(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107814644G>A; NC_000023.10:g.107814644G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021144.1, RCV000021145.1,

[PMID 9195222] The clinical spectrum of type IV collagen mutations.