rs104886319

Orientation

plus

Stabilized

plus

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

Make rs104886319(A;G)

Make rs104886319(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108591559

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886319
dbSNP (classic)	rs104886319
ClinGen	rs104886319
ebi	rs104886319
HLI	rs104886319
Exac	rs104886319
Gnomad	rs104886319
Varsome	rs104886319
LitVar	rs104886319
Map	rs104886319
PheGenI	rs104886319
Biobank	rs104886319
1000 genomes	rs104886319
hgdp	rs104886319
ensembl	rs104886319
geneview	rs104886319
scholar	rs104886319
google	rs104886319
pharmgkb	rs104886319
gwascentral	rs104886319
openSNP	rs104886319
23andMe	rs104886319
SNPshot	rs104886319
SNPdbe	rs104886319
MSV3d	rs104886319
GWAS Ctlg	rs104886319

Max Magnitude

0

ClinVar
Risk	rs104886319(G;G)
Alt	rs104886319(G;G)
Reference	Rs104886319(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107834789A>G
CLNSRC	ARUP COL4A5
CLNACC	RCV000021278.1,

[PMID 9195222] The clinical spectrum of type IV collagen mutations.

OMIM	301050
Desc
Variant
Related	also