rs104886331

Orientation

plus

Stabilized

plus

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

Make rs104886331(A;A)

Make rs104886331(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108595602

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886331
dbSNP (classic)	rs104886331
ClinGen	rs104886331
ebi	rs104886331
HLI	rs104886331
Exac	rs104886331
Gnomad	rs104886331
Varsome	rs104886331
LitVar	rs104886331
Map	rs104886331
PheGenI	rs104886331
Biobank	rs104886331
1000 genomes	rs104886331
hgdp	rs104886331
ensembl	rs104886331
geneview	rs104886331
scholar	rs104886331
google	rs104886331
pharmgkb	rs104886331
gwascentral	rs104886331
openSNP	rs104886331
23andMe	rs104886331
SNPshot	rs104886331
SNPdbe	rs104886331
MSV3d	rs104886331
GWAS Ctlg	rs104886331

Max Magnitude

0

ClinVar
Risk	rs104886331(A;A)
Alt	rs104886331(A;A)
Reference	Rs104886331(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107838832G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021299.1,

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

OMIM	301050
Desc
Variant
Related	also