rs104886213

Orientation

plus

Stabilized

plus

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

Make rs104886213(C;T)

Make rs104886213(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108626284

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886213
dbSNP (classic)	rs104886213
ClinGen	rs104886213
ebi	rs104886213
HLI	rs104886213
Exac	rs104886213
Gnomad	rs104886213
Varsome	rs104886213
LitVar	rs104886213
Map	rs104886213
PheGenI	rs104886213
Biobank	rs104886213
1000 genomes	rs104886213
hgdp	rs104886213
ensembl	rs104886213
geneview	rs104886213
scholar	rs104886213
google	rs104886213
pharmgkb	rs104886213
gwascentral	rs104886213
openSNP	rs104886213
23andMe	rs104886213
SNPshot	rs104886213
SNPdbe	rs104886213
MSV3d	rs104886213
GWAS Ctlg	rs104886213

Max Magnitude

0

ClinVar
Risk	rs104886213(T;T)
Alt	rs104886213(T;T)
Reference	Rs104886213(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107869514C>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021479.1,

[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.

OMIM	301050
Desc
Variant
Related	also