rs104886409

Orientation

plus

Stabilized

plus

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

Make rs104886409(-;C)

Make rs104886409(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108681886

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886409
dbSNP (classic)	rs104886409
ClinGen	rs104886409
ebi	rs104886409
HLI	rs104886409
Exac	rs104886409
Gnomad	rs104886409
Varsome	rs104886409
LitVar	rs104886409
Map	rs104886409
PheGenI	rs104886409
Biobank	rs104886409
1000 genomes	rs104886409
hgdp	rs104886409
ensembl	rs104886409
geneview	rs104886409
scholar	rs104886409
google	rs104886409
pharmgkb	rs104886409
gwascentral	rs104886409
openSNP	rs104886409
23andMe	rs104886409
SNPshot	rs104886409
SNPdbe	rs104886409
MSV3d	rs104886409
GWAS Ctlg	rs104886409

Max Magnitude

0

ClinVar
Risk	rs104886409(C;C)
Alt	rs104886409(C;C)
Reference	Rs104886409(-;-)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107925116dupC
CLNSRC	ClinVar
CLNACC	RCV000021592.1,

[PMID 10955921] Sporadic case of X-chromosomal Alport syndrome in a consanguineous family.

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