rs104886174

Orientation

plus

Stabilized

plus

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

Make rs104886174(A;A)

Make rs104886174(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108606829

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886174
dbSNP (classic)	rs104886174
ClinGen	rs104886174
ebi	rs104886174
HLI	rs104886174
Exac	rs104886174
Gnomad	rs104886174
Varsome	rs104886174
LitVar	rs104886174
Map	rs104886174
PheGenI	rs104886174
Biobank	rs104886174
1000 genomes	rs104886174
hgdp	rs104886174
ensembl	rs104886174
geneview	rs104886174
scholar	rs104886174
google	rs104886174
pharmgkb	rs104886174
gwascentral	rs104886174
openSNP	rs104886174
23andMe	rs104886174
SNPshot	rs104886174
SNPdbe	rs104886174
MSV3d	rs104886174
GWAS Ctlg	rs104886174

Max Magnitude

0

ClinVar
Risk	rs104886174(A;A)
Alt	rs104886174(A;A)
Reference	Rs104886174(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107850059G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021388.1,

[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.