rs104886060

Orientation

plus

Stabilized

plus

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

Make rs104886060(A;A)

Make rs104886060(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108575937

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886060
dbSNP (classic)	rs104886060
ClinGen	rs104886060
ebi	rs104886060
HLI	rs104886060
Exac	rs104886060
Gnomad	rs104886060
Varsome	rs104886060
LitVar	rs104886060
Map	rs104886060
PheGenI	rs104886060
Biobank	rs104886060
1000 genomes	rs104886060
hgdp	rs104886060
ensembl	rs104886060
geneview	rs104886060
scholar	rs104886060
google	rs104886060
pharmgkb	rs104886060
gwascentral	rs104886060
openSNP	rs104886060
23andMe	rs104886060
SNPshot	rs104886060
SNPdbe	rs104886060
MSV3d	rs104886060
GWAS Ctlg	rs104886060

Max Magnitude

0

ClinVar
Risk	rs104886060(A;A)
Alt	rs104886060(A;A)
Reference	Rs104886060(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107819167G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021169.1,

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

OMIM	301050
Desc
Variant
Related	also