rs104886284

Orientation

plus

Stabilized

plus

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

Make rs104886284(A;A)

Make rs104886284(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108687677

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886284
dbSNP (classic)	rs104886284
ClinGen	rs104886284
ebi	rs104886284
HLI	rs104886284
Exac	rs104886284
Gnomad	rs104886284
Varsome	rs104886284
LitVar	rs104886284
Map	rs104886284
PheGenI	rs104886284
Biobank	rs104886284
1000 genomes	rs104886284
hgdp	rs104886284
ensembl	rs104886284
geneview	rs104886284
scholar	rs104886284
google	rs104886284
pharmgkb	rs104886284
gwascentral	rs104886284
openSNP	rs104886284
23andMe	rs104886284
SNPshot	rs104886284
SNPdbe	rs104886284
MSV3d	rs104886284
GWAS Ctlg	rs104886284

Max Magnitude

0

ClinVar
Risk	rs104886284(A;A)
Alt	rs104886284(A;A)
Reference	Rs104886284(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107930907C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021621.1,

OMIM	301050
Desc
Variant
Related	also

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