rs281874760

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AGCCTGCAGAGGC;AGCCTGCAGAGGC)	0	common in clinvar
(GGCAGCCTGCAGA;GGCAGCCTGCAGA)	0	common in clinvar
(I;I)	0	common genotype

Make rs281874760(-;-)

Make rs281874760(-;AGCCTGCAGAGGC)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108440190

Gene	COL4A5, COL4A6

is a	snp
is	mentioned by
dbSNP	rs281874760
dbSNP (classic)	rs281874760
ClinGen	rs281874760
ebi	rs281874760
HLI	rs281874760
Exac	rs281874760
Gnomad	rs281874760
Varsome	rs281874760
LitVar	rs281874760
Map	rs281874760
PheGenI	rs281874760
Biobank	rs281874760
1000 genomes	rs281874760
hgdp	rs281874760
ensembl	rs281874760
geneview	rs281874760
scholar	rs281874760
google	rs281874760
pharmgkb	rs281874760
gwascentral	rs281874760
openSNP	rs281874760
23andMe	rs281874760
SNPshot	rs281874760
SNPdbe	rs281874760
MSV3d	rs281874760
GWAS Ctlg	rs281874760

Max Magnitude

0

ClinVar
Risk	rs281874760(-;-)
Alt	rs281874760(-;-)
Reference	Rs281874760(GGCAGCCTGCAGA;GGCAGCCTGCAGA)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5 COL4A6
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107683420_107683432delAGCCTGCAGAGGC
CLNSRC	ClinVar
CLNACC	RCV000021107.1,

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