rs281874701

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GGGTATGATG;GGGTATGATG)	0	common in clinvar
(GTATGATGGG;GTATGATGGG)	0	common in clinvar

Make rs281874701(-;-)

Make rs281874701(-;GTATGATGGG)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108621821

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874701
dbSNP (classic)	rs281874701
ClinGen	rs281874701
ebi	rs281874701
HLI	rs281874701
Exac	rs281874701
Gnomad	rs281874701
Varsome	rs281874701
LitVar	rs281874701
Map	rs281874701
PheGenI	rs281874701
Biobank	rs281874701
1000 genomes	rs281874701
hgdp	rs281874701
ensembl	rs281874701
geneview	rs281874701
scholar	rs281874701
google	rs281874701
pharmgkb	rs281874701
gwascentral	rs281874701
openSNP	rs281874701
23andMe	rs281874701
SNPshot	rs281874701
SNPdbe	rs281874701
MSV3d	rs281874701
GWAS Ctlg	rs281874701

Max Magnitude

0

ClinVar
Risk	rs281874701(-;-)
Alt	rs281874701(-;-)
Reference	Rs281874701(GGGTATGATG;GGGTATGATG)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107865051_107865060delGTATGATGGG
CLNSRC	ClinVar
CLNACC	RCV000032071.1,

[PMID 21143337] Mutation detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China.