rs104886341

Orientation

plus

Stabilized

plus

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

Make rs104886341(A;G)

Make rs104886341(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108601867

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886341
dbSNP (classic)	rs104886341
ClinGen	rs104886341
ebi	rs104886341
HLI	rs104886341
Exac	rs104886341
Gnomad	rs104886341
Varsome	rs104886341
LitVar	rs104886341
Map	rs104886341
PheGenI	rs104886341
Biobank	rs104886341
1000 genomes	rs104886341
hgdp	rs104886341
ensembl	rs104886341
geneview	rs104886341
scholar	rs104886341
google	rs104886341
pharmgkb	rs104886341
gwascentral	rs104886341
openSNP	rs104886341
23andMe	rs104886341
SNPshot	rs104886341
SNPdbe	rs104886341
MSV3d	rs104886341
GWAS Ctlg	rs104886341

Max Magnitude

0

ClinVar
Risk	rs104886341(G;G)
Alt	rs104886341(G;G)
Reference	Rs104886341(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107845097A>G
CLNSRC	ARUP COL4A5
CLNACC	RCV000021356.1,

[PMID 18846626] Gene symbol: COL4A5. Disease: Alport Syndrome.

OMIM	301050
Desc
Variant
Related	also