rs104886387

Orientation

plus

Stabilized

plus

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

Make rs104886387(A;A)

Make rs104886387(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108665496

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886387
dbSNP (classic)	rs104886387
ClinGen	rs104886387
ebi	rs104886387
HLI	rs104886387
Exac	rs104886387
Gnomad	rs104886387
Varsome	rs104886387
LitVar	rs104886387
Map	rs104886387
PheGenI	rs104886387
Biobank	rs104886387
1000 genomes	rs104886387
hgdp	rs104886387
ensembl	rs104886387
geneview	rs104886387
scholar	rs104886387
google	rs104886387
pharmgkb	rs104886387
gwascentral	rs104886387
openSNP	rs104886387
23andMe	rs104886387
SNPshot	rs104886387
SNPdbe	rs104886387
MSV3d	rs104886387
GWAS Ctlg	rs104886387

Max Magnitude

0

ClinVar
Risk	rs104886387(A;A)
Alt	rs104886387(A;A)
Reference	Rs104886387(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107908726C>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021502.1,

[PMID 10862091] Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

OMIM	301050
Desc
Variant
Related	also