rs104886365

Orientation

plus

Stabilized

plus

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

Make rs104886365(A;A)

Make rs104886365(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108563931

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886365
dbSNP (classic)	rs104886365
ClinGen	rs104886365
ebi	rs104886365
HLI	rs104886365
Exac	rs104886365
Gnomad	rs104886365
Varsome	rs104886365
LitVar	rs104886365
Map	rs104886365
PheGenI	rs104886365
Biobank	rs104886365
1000 genomes	rs104886365
hgdp	rs104886365
ensembl	rs104886365
geneview	rs104886365
scholar	rs104886365
google	rs104886365
pharmgkb	rs104886365
gwascentral	rs104886365
openSNP	rs104886365
23andMe	rs104886365
SNPshot	rs104886365
SNPdbe	rs104886365
MSV3d	rs104886365
GWAS Ctlg	rs104886365

Max Magnitude

0

ClinVar
Risk	rs104886365(A;A)
Alt	rs104886365(A;A)
Reference	Rs104886365(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107807161G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021133.1,

[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM	301050
Desc
Variant
Related	also