rs104886440

Orientation

plus

Stabilized

plus

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

Make rs104886440(A;A)

Make rs104886440(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108578120

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886440
dbSNP (classic)	rs104886440
ClinGen	rs104886440
ebi	rs104886440
HLI	rs104886440
Exac	rs104886440
Gnomad	rs104886440
Varsome	rs104886440
LitVar	rs104886440
Map	rs104886440
PheGenI	rs104886440
Biobank	rs104886440
1000 genomes	rs104886440
hgdp	rs104886440
ensembl	rs104886440
geneview	rs104886440
scholar	rs104886440
google	rs104886440
pharmgkb	rs104886440
gwascentral	rs104886440
openSNP	rs104886440
23andMe	rs104886440
SNPshot	rs104886440
SNPdbe	rs104886440
MSV3d	rs104886440
GWAS Ctlg	rs104886440

Max Magnitude

0

ClinVar
Risk	rs104886440(A;A)
Alt	rs104886440(A;A)
Reference	Rs104886440(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107821350G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021190.1,

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

OMIM	301050
Desc
Variant
Related	also