rs104886208

Orientation

plus

Stabilized

plus

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

Make rs104886208(-;-)

Make rs104886208(-;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108625745

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886208
dbSNP (classic)	rs104886208
ClinGen	rs104886208
ebi	rs104886208
HLI	rs104886208
Exac	rs104886208
Gnomad	rs104886208
Varsome	rs104886208
LitVar	rs104886208
Map	rs104886208
PheGenI	rs104886208
Biobank	rs104886208
1000 genomes	rs104886208
hgdp	rs104886208
ensembl	rs104886208
geneview	rs104886208
scholar	rs104886208
google	rs104886208
pharmgkb	rs104886208
gwascentral	rs104886208
openSNP	rs104886208
23andMe	rs104886208
SNPshot	rs104886208
SNPdbe	rs104886208
MSV3d	rs104886208
GWAS Ctlg	rs104886208

Max Magnitude

0

ClinVar
Risk	rs104886208(-;-)
Alt	rs104886208(-;-)
Reference	Rs104886208(T;T)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107868975delT
CLNSRC	ClinVar
CLNACC	RCV000021468.1,

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

OMIM	301050
Desc
Variant
Related	also