rs104886448

Orientation

plus

Stabilized

plus

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

Make rs104886448(A;A)

Make rs104886448(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108582883

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886448
dbSNP (classic)	rs104886448
ClinGen	rs104886448
ebi	rs104886448
HLI	rs104886448
Exac	rs104886448
Gnomad	rs104886448
Varsome	rs104886448
LitVar	rs104886448
Map	rs104886448
PheGenI	rs104886448
Biobank	rs104886448
1000 genomes	rs104886448
hgdp	rs104886448
ensembl	rs104886448
geneview	rs104886448
scholar	rs104886448
google	rs104886448
pharmgkb	rs104886448
gwascentral	rs104886448
openSNP	rs104886448
23andMe	rs104886448
SNPshot	rs104886448
SNPdbe	rs104886448
MSV3d	rs104886448
GWAS Ctlg	rs104886448

Max Magnitude

0

ClinVar
Risk	rs104886448(A;A)
Alt	rs104886448(A;A)
Reference	Rs104886448(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107826113G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021222.1,

[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM	301050
Desc
Variant
Related	also