rs104886359

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(TCCAGGACCTCCTGGACTTGATGT;TCCAGGACCTCCTGGACTTGATGT)	0	common in clinvar
(TCCTGGACTTGATGTTCCAGGACC;TCCTGGACTTGATGTTCCAGGACC)	0	common in clinvar

Make rs104886359(-;-)

Make rs104886359(-;TCCTGGACTTGATGTTCCAGGACC)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108620299

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886359
dbSNP (classic)	rs104886359
ClinGen	rs104886359
ebi	rs104886359
HLI	rs104886359
Exac	rs104886359
Gnomad	rs104886359
Varsome	rs104886359
LitVar	rs104886359
Map	rs104886359
PheGenI	rs104886359
Biobank	rs104886359
1000 genomes	rs104886359
hgdp	rs104886359
ensembl	rs104886359
geneview	rs104886359
scholar	rs104886359
google	rs104886359
pharmgkb	rs104886359
gwascentral	rs104886359
openSNP	rs104886359
23andMe	rs104886359
SNPshot	rs104886359
SNPdbe	rs104886359
MSV3d	rs104886359
GWAS Ctlg	rs104886359

Max Magnitude

0

ClinVar
Risk	rs104886359(-;-)
Alt	rs104886359(-;-)
Reference	Rs104886359(TCCAGGACCTCCTGGACTTGATGT;TCCAGGACCTCCTGGACTTGATGT)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107863529_107863552del24
CLNSRC	ClinVar
CLNACC	RCV000021414.1,

[PMID 15780079] Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.