rs104886349

Orientation

plus

Stabilized

plus

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

Make rs104886349(A;A)

Make rs104886349(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108559154

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886349
dbSNP (classic)	rs104886349
ClinGen	rs104886349
ebi	rs104886349
HLI	rs104886349
Exac	rs104886349
Gnomad	rs104886349
Varsome	rs104886349
LitVar	rs104886349
Map	rs104886349
PheGenI	rs104886349
Biobank	rs104886349
1000 genomes	rs104886349
hgdp	rs104886349
ensembl	rs104886349
geneview	rs104886349
scholar	rs104886349
google	rs104886349
pharmgkb	rs104886349
gwascentral	rs104886349
openSNP	rs104886349
23andMe	rs104886349
SNPshot	rs104886349
SNPdbe	rs104886349
MSV3d	rs104886349
GWAS Ctlg	rs104886349

Max Magnitude

0

ClinVar
Risk	rs104886349(A;A)
Alt	rs104886349(A;A)
Reference	Rs104886349(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107802384G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021126.1,

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

OMIM	301050
Desc
Variant
Related	also