rs104886218

Orientation

plus

Stabilized

plus

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

Make rs104886218(G;T)

Make rs104886218(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108626291

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886218
dbSNP (classic)	rs104886218
ClinGen	rs104886218
ebi	rs104886218
HLI	rs104886218
Exac	rs104886218
Gnomad	rs104886218
Varsome	rs104886218
LitVar	rs104886218
Map	rs104886218
PheGenI	rs104886218
Biobank	rs104886218
1000 genomes	rs104886218
hgdp	rs104886218
ensembl	rs104886218
geneview	rs104886218
scholar	rs104886218
google	rs104886218
pharmgkb	rs104886218
gwascentral	rs104886218
openSNP	rs104886218
23andMe	rs104886218
SNPshot	rs104886218
SNPdbe	rs104886218
MSV3d	rs104886218
GWAS Ctlg	rs104886218

Max Magnitude

0

ClinVar
Risk	rs104886218(T;T)
Alt	rs104886218(T;T)
Reference	Rs104886218(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107869521G>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021480.1,

[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM	301050
Desc
Variant
Related	also