rs104886073

Orientation

plus

Stabilized

plus

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

Make rs104886073(C;C)

Make rs104886073(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108580721

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886073
dbSNP (classic)	rs104886073
ClinGen	rs104886073
ebi	rs104886073
HLI	rs104886073
Exac	rs104886073
Gnomad	rs104886073
Varsome	rs104886073
LitVar	rs104886073
Map	rs104886073
PheGenI	rs104886073
Biobank	rs104886073
1000 genomes	rs104886073
hgdp	rs104886073
ensembl	rs104886073
geneview	rs104886073
scholar	rs104886073
google	rs104886073
pharmgkb	rs104886073
gwascentral	rs104886073
openSNP	rs104886073
23andMe	rs104886073
SNPshot	rs104886073
SNPdbe	rs104886073
MSV3d	rs104886073
GWAS Ctlg	rs104886073

Max Magnitude

0

ClinVar
Risk	rs104886073(C;C)
Alt	rs104886073(C;C)
Reference	Rs104886073(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107823951G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021211.1,

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

OMIM	301050
Desc
Variant
Related	also