rs104886241

Orientation

plus

Stabilized

plus

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

Make rs104886241(C;T)

Make rs104886241(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108666579

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886241
dbSNP (classic)	rs104886241
ClinGen	rs104886241
ebi	rs104886241
HLI	rs104886241
Exac	rs104886241
Gnomad	rs104886241
Varsome	rs104886241
LitVar	rs104886241
Map	rs104886241
PheGenI	rs104886241
Biobank	rs104886241
1000 genomes	rs104886241
hgdp	rs104886241
ensembl	rs104886241
geneview	rs104886241
scholar	rs104886241
google	rs104886241
pharmgkb	rs104886241
gwascentral	rs104886241
openSNP	rs104886241
23andMe	rs104886241
SNPshot	rs104886241
SNPdbe	rs104886241
MSV3d	rs104886241
GWAS Ctlg	rs104886241

Max Magnitude

0

ClinVar
Risk	rs104886241(T;T)
Alt	rs104886241(T;T)
Reference	Rs104886241(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107909809C>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021522.1,

[PMID 8940267] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM	301050
Desc
Variant
Related	also