rs104886330

Orientation

plus

Stabilized

plus

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

Make rs104886330(-;-)

Make rs104886330(-;AACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAA)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108595569

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886330
dbSNP (classic)	rs104886330
ClinGen	rs104886330
ebi	rs104886330
HLI	rs104886330
Exac	rs104886330
Gnomad	rs104886330
Varsome	rs104886330
LitVar	rs104886330
Map	rs104886330
PheGenI	rs104886330
Biobank	rs104886330
1000 genomes	rs104886330
hgdp	rs104886330
ensembl	rs104886330
geneview	rs104886330
scholar	rs104886330
google	rs104886330
pharmgkb	rs104886330
gwascentral	rs104886330
openSNP	rs104886330
23andMe	rs104886330
SNPshot	rs104886330
SNPdbe	rs104886330
MSV3d	rs104886330
GWAS Ctlg	rs104886330

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs104886330(AACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAA;AACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAA)
Significance	Probable-Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107838799_107838835del37
CLNSRC
CLNACC

[PMID 8651296] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.