rs104886378

Orientation

plus

Stabilized

plus

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

Make rs104886378(A;A)

Make rs104886378(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108625704

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886378
dbSNP (classic)	rs104886378
ClinGen	rs104886378
ebi	rs104886378
HLI	rs104886378
Exac	rs104886378
Gnomad	rs104886378
Varsome	rs104886378
LitVar	rs104886378
Map	rs104886378
PheGenI	rs104886378
Biobank	rs104886378
1000 genomes	rs104886378
hgdp	rs104886378
ensembl	rs104886378
geneview	rs104886378
scholar	rs104886378
google	rs104886378
pharmgkb	rs104886378
gwascentral	rs104886378
openSNP	rs104886378
23andMe	rs104886378
SNPshot	rs104886378
SNPdbe	rs104886378
MSV3d	rs104886378
GWAS Ctlg	rs104886378

Max Magnitude

0

ClinVar
Risk	rs104886378(A;A)
Alt	rs104886378(A;A)
Reference	Rs104886378(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107868934G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021463.1,

OMIM	301050
Desc
Variant
Related	also

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