rs104886121

Orientation

plus

Stabilized

plus

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

Make rs104886121(G;T)

Make rs104886121(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108597042

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886121
dbSNP (classic)	rs104886121
ClinGen	rs104886121
ebi	rs104886121
HLI	rs104886121
Exac	rs104886121
Gnomad	rs104886121
Varsome	rs104886121
LitVar	rs104886121
Map	rs104886121
PheGenI	rs104886121
Biobank	rs104886121
1000 genomes	rs104886121
hgdp	rs104886121
ensembl	rs104886121
geneview	rs104886121
scholar	rs104886121
google	rs104886121
pharmgkb	rs104886121
gwascentral	rs104886121
openSNP	rs104886121
23andMe	rs104886121
SNPshot	rs104886121
SNPdbe	rs104886121
MSV3d	rs104886121
GWAS Ctlg	rs104886121

Max Magnitude

0

OMIM	303630
Desc
Variant	0010
Related	also

OMIM	301050
Desc
Variant
Related	also

ClinVar
Risk	rs104886121(A;A) rs104886121(T;T)
Alt	rs104886121(A;A) rs104886121(T;T)
Reference	Rs104886121(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107840272G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011208.5,

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