rs104886158

Orientation

plus

Stabilized

plus

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

Make rs104886158(A;A)

Make rs104886158(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108601885

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886158
dbSNP (classic)	rs104886158
ClinGen	rs104886158
ebi	rs104886158
HLI	rs104886158
Exac	rs104886158
Gnomad	rs104886158
Varsome	rs104886158
LitVar	rs104886158
Map	rs104886158
PheGenI	rs104886158
Biobank	rs104886158
1000 genomes	rs104886158
hgdp	rs104886158
ensembl	rs104886158
geneview	rs104886158
scholar	rs104886158
google	rs104886158
pharmgkb	rs104886158
gwascentral	rs104886158
openSNP	rs104886158
23andMe	rs104886158
SNPshot	rs104886158
SNPdbe	rs104886158
MSV3d	rs104886158
GWAS Ctlg	rs104886158

Max Magnitude

0

ClinVar
Risk	rs104886158(A;A)
Alt	rs104886158(A;A)
Reference	Rs104886158(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107845115G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021357.1,

[PMID 8940267] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM	301050
Desc
Variant
Related	also