rs104886200

Orientation

plus

Stabilized

plus

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

Make rs104886200(-;-)

Make rs104886200(-;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108620392

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886200
dbSNP (classic)	rs104886200
ClinGen	rs104886200
ebi	rs104886200
HLI	rs104886200
Exac	rs104886200
Gnomad	rs104886200
Varsome	rs104886200
LitVar	rs104886200
Map	rs104886200
PheGenI	rs104886200
Biobank	rs104886200
1000 genomes	rs104886200
hgdp	rs104886200
ensembl	rs104886200
geneview	rs104886200
scholar	rs104886200
google	rs104886200
pharmgkb	rs104886200
gwascentral	rs104886200
openSNP	rs104886200
23andMe	rs104886200
SNPshot	rs104886200
SNPdbe	rs104886200
MSV3d	rs104886200
GWAS Ctlg	rs104886200

Max Magnitude

0

ClinVar
Risk	rs104886200(-;-)
Alt	rs104886200(-;-)
Reference	Rs104886200(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107863622delG
CLNSRC	ClinVar
CLNACC	RCV000021421.1,

[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

OMIM	301050
Desc
Variant
Related	also