rs104886276

Orientation

plus

Stabilized

plus

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

Make rs104886276(C;C)

Make rs104886276(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108687508

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886276
dbSNP (classic)	rs104886276
ClinGen	rs104886276
ebi	rs104886276
HLI	rs104886276
Exac	rs104886276
Gnomad	rs104886276
Varsome	rs104886276
LitVar	rs104886276
Map	rs104886276
PheGenI	rs104886276
Biobank	rs104886276
1000 genomes	rs104886276
hgdp	rs104886276
ensembl	rs104886276
geneview	rs104886276
scholar	rs104886276
google	rs104886276
pharmgkb	rs104886276
gwascentral	rs104886276
openSNP	rs104886276
23andMe	rs104886276
SNPshot	rs104886276
SNPdbe	rs104886276
MSV3d	rs104886276
GWAS Ctlg	rs104886276

Max Magnitude

0

ClinVar
Risk	rs104886276(C;C)
Alt	rs104886276(C;C)
Reference	Rs104886276(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107930738G>C
CLNSRC	ARUP COL4A5
CLNACC	RCV000021608.1,

[PMID 16941480] A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.

OMIM	301050
Desc
Variant
Related	also