rs104886247

Orientation

plus

Stabilized

plus

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

Make rs104886247(A;A)

Make rs104886247(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108668346

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886247
dbSNP (classic)	rs104886247
ClinGen	rs104886247
ebi	rs104886247
HLI	rs104886247
Exac	rs104886247
Gnomad	rs104886247
Varsome	rs104886247
LitVar	rs104886247
Map	rs104886247
PheGenI	rs104886247
Biobank	rs104886247
1000 genomes	rs104886247
hgdp	rs104886247
ensembl	rs104886247
geneview	rs104886247
scholar	rs104886247
google	rs104886247
pharmgkb	rs104886247
gwascentral	rs104886247
openSNP	rs104886247
23andMe	rs104886247
SNPshot	rs104886247
SNPdbe	rs104886247
MSV3d	rs104886247
GWAS Ctlg	rs104886247

Max Magnitude

0

ClinVar
Risk	rs104886247(A;A)
Alt	rs104886247(A;A)
Reference	Rs104886247(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107911576G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021541.1,

OMIM	301050
Desc
Variant
Related	also

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