rs104886171

Orientation

plus

Stabilized

plus

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

Make rs104886171(A;A)

Make rs104886171(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108606784

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886171
dbSNP (classic)	rs104886171
ClinGen	rs104886171
ebi	rs104886171
HLI	rs104886171
Exac	rs104886171
Gnomad	rs104886171
Varsome	rs104886171
LitVar	rs104886171
Map	rs104886171
PheGenI	rs104886171
Biobank	rs104886171
1000 genomes	rs104886171
hgdp	rs104886171
ensembl	rs104886171
geneview	rs104886171
scholar	rs104886171
google	rs104886171
pharmgkb	rs104886171
gwascentral	rs104886171
openSNP	rs104886171
23andMe	rs104886171
SNPshot	rs104886171
SNPdbe	rs104886171
MSV3d	rs104886171
GWAS Ctlg	rs104886171

Max Magnitude

0

ClinVar
Risk	rs104886171(A;A)
Alt	rs104886171(A;A)
Reference	Rs104886171(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107850014G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021381.1,

[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM	301050
Desc
Variant
Related	also