rs281874693

Merged into

rs104886356

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(ACCACCAGG;ACCACCAGG)	0	common in clinvar
(GGACCACCA;GGACCACCA)	0	common in clinvar
(I;I)	0	common genotype

Make rs281874693(-;-)

Make rs281874693(-;ACCACCAGG)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108614990

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874693
dbSNP (classic)	rs281874693
ClinGen	rs281874693
ebi	rs281874693
HLI	rs281874693
Exac	rs281874693
Gnomad	rs281874693
Varsome	rs281874693
LitVar	rs281874693
Map	rs281874693
PheGenI	rs281874693
Biobank	rs281874693
1000 genomes	rs281874693
hgdp	rs281874693
ensembl	rs281874693
geneview	rs281874693
scholar	rs281874693
google	rs281874693
pharmgkb	rs281874693
gwascentral	rs281874693
openSNP	rs281874693
23andMe	rs281874693
SNPshot	rs281874693
SNPdbe	rs281874693
MSV3d	rs281874693
GWAS Ctlg	rs281874693

Status

Merged into rs104886356

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs281874693(GGACCACCA;GGACCACCA)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107858220_107858228delACCACCAGG
CLNSRC	ClinVar
CLNACC	RCV000021406.2,

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