rs104886368

Orientation

plus

Stabilized

plus

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

Make rs104886368(-;T)

Make rs104886368(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108622710

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886368
dbSNP (classic)	rs104886368
ClinGen	rs104886368
ebi	rs104886368
HLI	rs104886368
Exac	rs104886368
Gnomad	rs104886368
Varsome	rs104886368
LitVar	rs104886368
Map	rs104886368
PheGenI	rs104886368
Biobank	rs104886368
1000 genomes	rs104886368
hgdp	rs104886368
ensembl	rs104886368
geneview	rs104886368
scholar	rs104886368
google	rs104886368
pharmgkb	rs104886368
gwascentral	rs104886368
openSNP	rs104886368
23andMe	rs104886368
SNPshot	rs104886368
SNPdbe	rs104886368
MSV3d	rs104886368
GWAS Ctlg	rs104886368

Max Magnitude

0

ClinVar
Risk	rs104886368(T;T)
Alt	rs104886368(T;T)
Reference	Rs104886368(-;-)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107865940dupT
CLNSRC	ClinVar
CLNACC	RCV000021445.1,

OMIM	301050
Desc
Variant
Related	also

[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.