rs104886187

Orientation

plus

Stabilized

plus

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

Make rs104886187(A;A)

Make rs104886187(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108620304

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886187
dbSNP (classic)	rs104886187
ClinGen	rs104886187
ebi	rs104886187
HLI	rs104886187
Exac	rs104886187
Gnomad	rs104886187
Varsome	rs104886187
LitVar	rs104886187
Map	rs104886187
PheGenI	rs104886187
Biobank	rs104886187
1000 genomes	rs104886187
hgdp	rs104886187
ensembl	rs104886187
geneview	rs104886187
scholar	rs104886187
google	rs104886187
pharmgkb	rs104886187
gwascentral	rs104886187
openSNP	rs104886187
23andMe	rs104886187
SNPshot	rs104886187
SNPdbe	rs104886187
MSV3d	rs104886187
GWAS Ctlg	rs104886187

Max Magnitude

0

ClinVar
Risk	rs104886187(A;A)
Alt	rs104886187(A;A)
Reference	Rs104886187(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107863534G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021416.1,

[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.

OMIM	301050
Desc
Variant
Related	also