rs104886125

Orientation

plus

Stabilized

plus

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

Make rs104886125(A;A)

Make rs104886125(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108597396

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886125
dbSNP (classic)	rs104886125
ClinGen	rs104886125
ebi	rs104886125
HLI	rs104886125
Exac	rs104886125
Gnomad	rs104886125
Varsome	rs104886125
LitVar	rs104886125
Map	rs104886125
PheGenI	rs104886125
Biobank	rs104886125
1000 genomes	rs104886125
hgdp	rs104886125
ensembl	rs104886125
geneview	rs104886125
scholar	rs104886125
google	rs104886125
pharmgkb	rs104886125
gwascentral	rs104886125
openSNP	rs104886125
23andMe	rs104886125
SNPshot	rs104886125
SNPdbe	rs104886125
MSV3d	rs104886125
GWAS Ctlg	rs104886125

Max Magnitude

0

ClinVar
Risk	rs104886125(A;A)
Alt	rs104886125(A;A)
Reference	Rs104886125(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107840626G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021308.1,

[PMID 17660027] Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

OMIM	301050
Desc
Variant
Related	also