rs281874665

Merged into

rs104886321

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CCAGGCCCC;CCAGGCCCC)	0	common in clinvar
(CCCCCCAGG;CCCCCCAGG)	0	common in clinvar

Make rs281874665(-;-)

Make rs281874665(-;CCCCCCAGG)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108591592

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874665
dbSNP (classic)	rs281874665
ClinGen	rs281874665
ebi	rs281874665
HLI	rs281874665
Exac	rs281874665
Gnomad	rs281874665
Varsome	rs281874665
LitVar	rs281874665
Map	rs281874665
PheGenI	rs281874665
Biobank	rs281874665
1000 genomes	rs281874665
hgdp	rs281874665
ensembl	rs281874665
geneview	rs281874665
scholar	rs281874665
google	rs281874665
pharmgkb	rs281874665
gwascentral	rs281874665
openSNP	rs281874665
23andMe	rs281874665
SNPshot	rs281874665
SNPdbe	rs281874665
MSV3d	rs281874665
GWAS Ctlg	rs281874665

Status

Merged into rs104886321

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs281874665(CCAGGCCCC;CCAGGCCCC)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107834822_107834830delCCCCCCAGG
CLNSRC	ClinVar
CLNACC	RCV000021282.2,

[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.