rs104886406

Orientation

plus

Stabilized

plus

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

Make rs104886406(-;C)

Make rs104886406(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108681868

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886406
dbSNP (classic)	rs104886406
ClinGen	rs104886406
ebi	rs104886406
HLI	rs104886406
Exac	rs104886406
Gnomad	rs104886406
Varsome	rs104886406
LitVar	rs104886406
Map	rs104886406
PheGenI	rs104886406
Biobank	rs104886406
1000 genomes	rs104886406
hgdp	rs104886406
ensembl	rs104886406
geneview	rs104886406
scholar	rs104886406
google	rs104886406
pharmgkb	rs104886406
gwascentral	rs104886406
openSNP	rs104886406
23andMe	rs104886406
SNPshot	rs104886406
SNPdbe	rs104886406
MSV3d	rs104886406
GWAS Ctlg	rs104886406

Max Magnitude

0

ClinVar
Risk	rs104886406(C;C)
Alt	rs104886406(C;C)
Reference	Rs104886406(;)
Significance	Probable-Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107925098_107925099insC
CLNSRC
CLNACC

[PMID 12105244] Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.