rs104886133

Orientation

plus

Stabilized

plus

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

Make rs104886133(G;T)

Make rs104886133(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108598730

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886133
dbSNP (classic)	rs104886133
ClinGen	rs104886133
ebi	rs104886133
HLI	rs104886133
Exac	rs104886133
Gnomad	rs104886133
Varsome	rs104886133
LitVar	rs104886133
Map	rs104886133
PheGenI	rs104886133
Biobank	rs104886133
1000 genomes	rs104886133
hgdp	rs104886133
ensembl	rs104886133
geneview	rs104886133
scholar	rs104886133
google	rs104886133
pharmgkb	rs104886133
gwascentral	rs104886133
openSNP	rs104886133
23andMe	rs104886133
SNPshot	rs104886133
SNPdbe	rs104886133
MSV3d	rs104886133
GWAS Ctlg	rs104886133

Max Magnitude

0

ClinVar
Risk	rs104886133(T;T)
Alt	rs104886133(T;T)
Reference	Rs104886133(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107841960G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021329.1,

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

OMIM	301050
Desc
Variant
Related	also