rs104886216

Orientation

plus

Stabilized

plus

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

Make rs104886216(G;T)

Make rs104886216(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108626272

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886216
dbSNP (classic)	rs104886216
ClinGen	rs104886216
ebi	rs104886216
HLI	rs104886216
Exac	rs104886216
Gnomad	rs104886216
Varsome	rs104886216
LitVar	rs104886216
Map	rs104886216
PheGenI	rs104886216
Biobank	rs104886216
1000 genomes	rs104886216
hgdp	rs104886216
ensembl	rs104886216
geneview	rs104886216
scholar	rs104886216
google	rs104886216
pharmgkb	rs104886216
gwascentral	rs104886216
openSNP	rs104886216
23andMe	rs104886216
SNPshot	rs104886216
SNPdbe	rs104886216
MSV3d	rs104886216
GWAS Ctlg	rs104886216

Max Magnitude

0

ClinVar
Risk	rs104886216(T;T)
Alt	rs104886216(T;T)
Reference	Rs104886216(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107869502G>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021477.1,

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

OMIM	301050
Desc
Variant
Related	also