rs104886446

Orientation

plus

Stabilized

plus

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

Make rs104886446(A;A)

Make rs104886446(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108580587

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886446
dbSNP (classic)	rs104886446
ClinGen	rs104886446
ebi	rs104886446
HLI	rs104886446
Exac	rs104886446
Gnomad	rs104886446
Varsome	rs104886446
LitVar	rs104886446
Map	rs104886446
PheGenI	rs104886446
Biobank	rs104886446
1000 genomes	rs104886446
hgdp	rs104886446
ensembl	rs104886446
geneview	rs104886446
scholar	rs104886446
google	rs104886446
pharmgkb	rs104886446
gwascentral	rs104886446
openSNP	rs104886446
23andMe	rs104886446
SNPshot	rs104886446
SNPdbe	rs104886446
MSV3d	rs104886446
GWAS Ctlg	rs104886446

Max Magnitude

0

ClinVar
Risk	rs104886446(A;A)
Alt	rs104886446(A;A)
Reference	Rs104886446(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107823817G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021205.1,

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

OMIM	301050
Desc
Variant
Related	also