rs104886268

Orientation

plus

Stabilized

plus

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

Make rs104886268(-;-)

Make rs104886268(-;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108681761

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886268
ClinGen	rs104886268
ebi	rs104886268
HLI	rs104886268
Exac	rs104886268
Varsome	rs104886268
Map	rs104886268
PheGenI	rs104886268
hapmap	rs104886268
1000 genomes	rs104886268
hgdp	rs104886268
ensembl	rs104886268
gopubmed	rs104886268
geneview	rs104886268
scholar	rs104886268
google	rs104886268
pharmgkb	rs104886268
gwascentral	rs104886268
openSNP	rs104886268
23andMe	rs104886268
23andMe all	rs104886268
SNP Nexus
SNPshot	rs104886268
SNPdbe	rs104886268
MSV3d	rs104886268
GWAS Ctlg	rs104886268

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs104886268(T;T)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107924991delT
CLNSRC	ClinVar
CLNACC	RCV000021583.1,

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

OMIM	301050
Desc
Variant
Related	also