rs104886298

Orientation

plus

Stabilized

plus

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

Make rs104886298(A;G)

Make rs104886298(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108694908

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886298
dbSNP (classic)	rs104886298
ClinGen	rs104886298
ebi	rs104886298
HLI	rs104886298
Exac	rs104886298
Gnomad	rs104886298
Varsome	rs104886298
LitVar	rs104886298
Map	rs104886298
PheGenI	rs104886298
Biobank	rs104886298
1000 genomes	rs104886298
hgdp	rs104886298
ensembl	rs104886298
geneview	rs104886298
scholar	rs104886298
google	rs104886298
pharmgkb	rs104886298
gwascentral	rs104886298
openSNP	rs104886298
23andMe	rs104886298
SNPshot	rs104886298
SNPdbe	rs104886298
MSV3d	rs104886298
GWAS Ctlg	rs104886298

Max Magnitude

0

ClinVar
Risk	rs104886298(G;G)
Alt	rs104886298(G;G)
Reference	Rs104886298(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107938138A>G
CLNSRC	ARUP COL4A5
CLNACC	RCV000021650.1,

OMIM	301050
Desc
Variant
Related	also

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