rs104886111

Orientation

plus

Stabilized

plus

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

Make rs104886111(A;A)

Make rs104886111(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108591168

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886111
dbSNP (classic)	rs104886111
ClinGen	rs104886111
ebi	rs104886111
HLI	rs104886111
Exac	rs104886111
Gnomad	rs104886111
Varsome	rs104886111
LitVar	rs104886111
Map	rs104886111
PheGenI	rs104886111
Biobank	rs104886111
1000 genomes	rs104886111
hgdp	rs104886111
ensembl	rs104886111
geneview	rs104886111
scholar	rs104886111
google	rs104886111
pharmgkb	rs104886111
gwascentral	rs104886111
openSNP	rs104886111
23andMe	rs104886111
SNPshot	rs104886111
SNPdbe	rs104886111
MSV3d	rs104886111
GWAS Ctlg	rs104886111

Max Magnitude

0

ClinVar
Risk	rs104886111(A;A)
Alt	rs104886111(A;A)
Reference	Rs104886111(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107834398G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021272.1,

[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM	301050
Desc
Variant
Related	also