rs104886215

Orientation

plus

Stabilized

plus

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

Make rs104886215(A;A)

Make rs104886215(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108626237

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886215
dbSNP (classic)	rs104886215
ClinGen	rs104886215
ebi	rs104886215
HLI	rs104886215
Exac	rs104886215
Gnomad	rs104886215
Varsome	rs104886215
LitVar	rs104886215
Map	rs104886215
PheGenI	rs104886215
Biobank	rs104886215
1000 genomes	rs104886215
hgdp	rs104886215
ensembl	rs104886215
geneview	rs104886215
scholar	rs104886215
google	rs104886215
pharmgkb	rs104886215
gwascentral	rs104886215
openSNP	rs104886215
23andMe	rs104886215
SNPshot	rs104886215
SNPdbe	rs104886215
MSV3d	rs104886215
GWAS Ctlg	rs104886215

Max Magnitude

0

ClinVar
Risk	rs104886215(A;A)
Alt	rs104886215(A;A)
Reference	Rs104886215(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107869467G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021475.1,

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

OMIM	301050
Desc
Variant
Related	also