rs104886260

Orientation

plus

Stabilized

plus

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

Make rs104886260(A;T)

Make rs104886260(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108680712

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886260
dbSNP (classic)	rs104886260
ClinGen	rs104886260
ebi	rs104886260
HLI	rs104886260
Exac	rs104886260
Gnomad	rs104886260
Varsome	rs104886260
LitVar	rs104886260
Map	rs104886260
PheGenI	rs104886260
Biobank	rs104886260
1000 genomes	rs104886260
hgdp	rs104886260
ensembl	rs104886260
geneview	rs104886260
scholar	rs104886260
google	rs104886260
pharmgkb	rs104886260
gwascentral	rs104886260
openSNP	rs104886260
23andMe	rs104886260
SNPshot	rs104886260
SNPdbe	rs104886260
MSV3d	rs104886260
GWAS Ctlg	rs104886260

Max Magnitude

0

ClinVar
Risk	rs104886260(T;T)
Alt	rs104886260(T;T)
Reference	Rs104886260(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107923942A>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021573.1,

[PMID 18350645] Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome.

OMIM	301050
Desc
Variant
Related	also