rs104886429

Orientation

plus

Stabilized

plus

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

Make rs104886429(A;A)

Make rs104886429(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108573655

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886429
dbSNP (classic)	rs104886429
ClinGen	rs104886429
ebi	rs104886429
HLI	rs104886429
Exac	rs104886429
Gnomad	rs104886429
Varsome	rs104886429
LitVar	rs104886429
Map	rs104886429
PheGenI	rs104886429
Biobank	rs104886429
1000 genomes	rs104886429
hgdp	rs104886429
ensembl	rs104886429
geneview	rs104886429
scholar	rs104886429
google	rs104886429
pharmgkb	rs104886429
gwascentral	rs104886429
openSNP	rs104886429
23andMe	rs104886429
SNPshot	rs104886429
SNPdbe	rs104886429
MSV3d	rs104886429
GWAS Ctlg	rs104886429

Max Magnitude

0

ClinVar
Risk	rs104886429(A;A)
Alt	rs104886429(A;A)
Reference	Rs104886429(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107816885G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021162.1,

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

OMIM	301050
Desc
Variant
Related	also