rs104886358

Orientation

plus

Stabilized

plus

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

Make rs104886358(A;G)

Make rs104886358(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108620226

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886358
dbSNP (classic)	rs104886358
ClinGen	rs104886358
ebi	rs104886358
HLI	rs104886358
Exac	rs104886358
Gnomad	rs104886358
Varsome	rs104886358
LitVar	rs104886358
Map	rs104886358
PheGenI	rs104886358
Biobank	rs104886358
1000 genomes	rs104886358
hgdp	rs104886358
ensembl	rs104886358
geneview	rs104886358
scholar	rs104886358
google	rs104886358
pharmgkb	rs104886358
gwascentral	rs104886358
openSNP	rs104886358
23andMe	rs104886358
SNPshot	rs104886358
SNPdbe	rs104886358
MSV3d	rs104886358
GWAS Ctlg	rs104886358

Max Magnitude

0

ClinVar
Risk	rs104886358(G;G)
Alt	rs104886358(G;G)
Reference	Rs104886358(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107863456A>G
CLNSRC	ARUP COL4A5
CLNACC	RCV000021410.1,

[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

OMIM	301050
Desc
Variant
Related	also