rs104886412

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GTTTGGATGGTCCCCCTGGTCCAGATG;GTTTGGATGGTCCCCCTGGTCCAGATG)	0	common in clinvar
(TGGTTTGGATGGTCCCCCTGGTCCAGA;TGGTTTGGATGGTCCCCCTGGTCCAGA)	0	common in clinvar

Make rs104886412(-;-)

Make rs104886412(-;GTTTGGATGGTCCCCCTGGTCCAGATG)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108687491

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886412
dbSNP (classic)	rs104886412
ClinGen	rs104886412
ebi	rs104886412
HLI	rs104886412
Exac	rs104886412
Gnomad	rs104886412
Varsome	rs104886412
LitVar	rs104886412
Map	rs104886412
PheGenI	rs104886412
Biobank	rs104886412
1000 genomes	rs104886412
hgdp	rs104886412
ensembl	rs104886412
geneview	rs104886412
scholar	rs104886412
google	rs104886412
pharmgkb	rs104886412
gwascentral	rs104886412
openSNP	rs104886412
23andMe	rs104886412
SNPshot	rs104886412
SNPdbe	rs104886412
MSV3d	rs104886412
GWAS Ctlg	rs104886412

Max Magnitude

0

ClinVar
Risk	rs104886412(-;-)
Alt	rs104886412(-;-)
Reference	Rs104886412(TGGTTTGGATGGTCCCCCTGGTCCAGA;TGGTTTGGATGGTCCCCCTGGTCCAGA)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107930739_107930765del27
CLNSRC
CLNACC	RCV000021609.1,

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