rs281874736

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(;)	0	common in clinvar

Make rs281874736(-;GGTCCCCCTGGTCCAGATGGATTGCAAGGTCCCCCA)

Make rs281874736(GGTCCCCCTGGTCCAGATGGATTGCAAGGTCCCCCA;GGTCCCCCTGGTCCAGATGGATTGCAAGGTCCCCCA)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108687534

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874736
dbSNP (classic)	rs281874736
ClinGen	rs281874736
ebi	rs281874736
HLI	rs281874736
Exac	rs281874736
Gnomad	rs281874736
Varsome	rs281874736
LitVar	rs281874736
Map	rs281874736
PheGenI	rs281874736
Biobank	rs281874736
1000 genomes	rs281874736
hgdp	rs281874736
ensembl	rs281874736
geneview	rs281874736
scholar	rs281874736
google	rs281874736
pharmgkb	rs281874736
gwascentral	rs281874736
openSNP	rs281874736
23andMe	rs281874736
SNPshot	rs281874736
SNPdbe	rs281874736
MSV3d	rs281874736
GWAS Ctlg	rs281874736

Max Magnitude

0

ClinVar
Risk	rs281874736(GGTCCCCCTGGTCCAGATGGATTGCAAGGTCCCCCA;GGTCCCCCTGGTCCAGATGGATTGCAAGGTCCCCCA)
Alt	rs281874736(GGTCCCCCTGGTCCAGATGGATTGCAAGGTCCCCCA;GGTCCCCCTGGTCCAGATGGATTGCAAGGTCCCCCA)
Reference	Rs281874736(-;-)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107930729_107930764dup36
CLNSRC	ClinVar
CLNACC	RCV000021607.1,

[PMID 8651296] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.