rs104886195

Orientation

plus

Stabilized

plus

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

Make rs104886195(A;A)

Make rs104886195(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108622712

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886195
dbSNP (classic)	rs104886195
ClinGen	rs104886195
ebi	rs104886195
HLI	rs104886195
Exac	rs104886195
Gnomad	rs104886195
Varsome	rs104886195
LitVar	rs104886195
Map	rs104886195
PheGenI	rs104886195
Biobank	rs104886195
1000 genomes	rs104886195
hgdp	rs104886195
ensembl	rs104886195
geneview	rs104886195
scholar	rs104886195
google	rs104886195
pharmgkb	rs104886195
gwascentral	rs104886195
openSNP	rs104886195
23andMe	rs104886195
SNPshot	rs104886195
SNPdbe	rs104886195
MSV3d	rs104886195
GWAS Ctlg	rs104886195

Max Magnitude

0

ClinVar
Risk	rs104886195(A;A)
Alt	rs104886195(A;A)
Reference	Rs104886195(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107865942G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021446.1,

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

OMIM	301050
Desc
Variant
Related	also