rs104886098

Orientation

plus

Stabilized

plus

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

Make rs104886098(A;A)

Make rs104886098(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108586721

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886098
dbSNP (classic)	rs104886098
ClinGen	rs104886098
ebi	rs104886098
HLI	rs104886098
Exac	rs104886098
Gnomad	rs104886098
Varsome	rs104886098
LitVar	rs104886098
Map	rs104886098
PheGenI	rs104886098
Biobank	rs104886098
1000 genomes	rs104886098
hgdp	rs104886098
ensembl	rs104886098
geneview	rs104886098
scholar	rs104886098
google	rs104886098
pharmgkb	rs104886098
gwascentral	rs104886098
openSNP	rs104886098
23andMe	rs104886098
SNPshot	rs104886098
SNPdbe	rs104886098
MSV3d	rs104886098
GWAS Ctlg	rs104886098

Max Magnitude

0

ClinVar
Risk	rs104886098(A;A)
Alt	rs104886098(A;A)
Reference	Rs104886098(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107829951G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021248.1,

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