rs104886198

Orientation

plus

Stabilized

plus

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

Make rs104886198(-;-)

Make rs104886198(-;A)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108620374

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886198
dbSNP (classic)	rs104886198
ClinGen	rs104886198
ebi	rs104886198
HLI	rs104886198
Exac	rs104886198
Gnomad	rs104886198
Varsome	rs104886198
LitVar	rs104886198
Map	rs104886198
PheGenI	rs104886198
Biobank	rs104886198
1000 genomes	rs104886198
hgdp	rs104886198
ensembl	rs104886198
geneview	rs104886198
scholar	rs104886198
google	rs104886198
pharmgkb	rs104886198
gwascentral	rs104886198
openSNP	rs104886198
23andMe	rs104886198
SNPshot	rs104886198
SNPdbe	rs104886198
MSV3d	rs104886198
GWAS Ctlg	rs104886198

Max Magnitude

0

ClinVar
Risk	rs104886198(-;-)
Alt	rs104886198(-;-)
Reference	Rs104886198(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107863604delA
CLNSRC	ClinVar
CLNACC	RCV000021425.1,

[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.

OMIM	301050
Desc
Variant
Related	also