rs104886169

Orientation

plus

Stabilized

plus

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

Make rs104886169(G;T)

Make rs104886169(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108601941

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886169
dbSNP (classic)	rs104886169
ClinGen	rs104886169
ebi	rs104886169
HLI	rs104886169
Exac	rs104886169
Gnomad	rs104886169
Varsome	rs104886169
LitVar	rs104886169
Map	rs104886169
PheGenI	rs104886169
Biobank	rs104886169
1000 genomes	rs104886169
hgdp	rs104886169
ensembl	rs104886169
geneview	rs104886169
scholar	rs104886169
google	rs104886169
pharmgkb	rs104886169
gwascentral	rs104886169
openSNP	rs104886169
23andMe	rs104886169
SNPshot	rs104886169
SNPdbe	rs104886169
MSV3d	rs104886169
GWAS Ctlg	rs104886169

Max Magnitude

0

ClinVar
Risk	rs104886169(T;T)
Alt	rs104886169(T;T)
Reference	Rs104886169(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107845171G>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021364.1,

[PMID 18616531] MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

OMIM	301050
Desc
Variant
Related	also