rs104886150

Orientation

plus

Stabilized

plus

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

Make rs104886150(A;A)

Make rs104886150(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108601401

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886150
dbSNP (classic)	rs104886150
ClinGen	rs104886150
ebi	rs104886150
HLI	rs104886150
Exac	rs104886150
Gnomad	rs104886150
Varsome	rs104886150
LitVar	rs104886150
Map	rs104886150
PheGenI	rs104886150
Biobank	rs104886150
1000 genomes	rs104886150
hgdp	rs104886150
ensembl	rs104886150
geneview	rs104886150
scholar	rs104886150
google	rs104886150
pharmgkb	rs104886150
gwascentral	rs104886150
openSNP	rs104886150
23andMe	rs104886150
SNPshot	rs104886150
SNPdbe	rs104886150
MSV3d	rs104886150
GWAS Ctlg	rs104886150

Max Magnitude

0

ClinVar
Risk	rs104886150(A;A)
Alt	rs104886150(A;A)
Reference	Rs104886150(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107844631G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021346.1,

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

OMIM	301050
Desc
Variant
Related	also