rs104886316

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs104886316(-;T)

Make rs104886316(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108586644

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886316
dbSNP (classic)	rs104886316
ClinGen	rs104886316
ebi	rs104886316
HLI	rs104886316
Exac	rs104886316
Gnomad	rs104886316
Varsome	rs104886316
LitVar	rs104886316
Map	rs104886316
PheGenI	rs104886316
Biobank	rs104886316
1000 genomes	rs104886316
hgdp	rs104886316
ensembl	rs104886316
geneview	rs104886316
scholar	rs104886316
google	rs104886316
pharmgkb	rs104886316
gwascentral	rs104886316
openSNP	rs104886316
23andMe	rs104886316
SNPshot	rs104886316
SNPdbe	rs104886316
MSV3d	rs104886316
GWAS Ctlg	rs104886316

Max Magnitude

0

ClinVar
Risk	rs104886316(T;T)
Alt	rs104886316(T;T)
Reference	Rs104886316(-;-)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107829874dupT
CLNSRC	ClinVar
CLNACC	RCV000021240.1,

[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.