rs104886430

Orientation

plus

Stabilized

plus

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

Make rs104886430(-;T)

Make rs104886430(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108573657

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886430
dbSNP (classic)	rs104886430
ClinGen	rs104886430
ebi	rs104886430
HLI	rs104886430
Exac	rs104886430
Gnomad	rs104886430
Varsome	rs104886430
LitVar	rs104886430
Map	rs104886430
PheGenI	rs104886430
Biobank	rs104886430
1000 genomes	rs104886430
hgdp	rs104886430
ensembl	rs104886430
geneview	rs104886430
scholar	rs104886430
google	rs104886430
pharmgkb	rs104886430
gwascentral	rs104886430
openSNP	rs104886430
23andMe	rs104886430
SNPshot	rs104886430
SNPdbe	rs104886430
MSV3d	rs104886430
GWAS Ctlg	rs104886430

Max Magnitude

0

ClinVar
Risk	rs104886430(T;T)
Alt	rs104886430(T;T)
Reference	Rs104886430(-;-)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107816887_107816888insT
CLNSRC	ClinVar
CLNACC	RCV000021163.1,

[PMID 8940267] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.