rs104886391

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTCTCC;AGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTCTCC)	0	common in clinvar
(I;I)	0	common genotype
(TCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC;TCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC)	0	common in clinvar

Make rs104886391(-;-)

Make rs104886391(-;AGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTCTCC)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108668371

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886391
dbSNP (classic)	rs104886391
ClinGen	rs104886391
ebi	rs104886391
HLI	rs104886391
Exac	rs104886391
Gnomad	rs104886391
Varsome	rs104886391
LitVar	rs104886391
Map	rs104886391
PheGenI	rs104886391
Biobank	rs104886391
1000 genomes	rs104886391
hgdp	rs104886391
ensembl	rs104886391
geneview	rs104886391
scholar	rs104886391
google	rs104886391
pharmgkb	rs104886391
gwascentral	rs104886391
openSNP	rs104886391
23andMe	rs104886391
SNPshot	rs104886391
SNPdbe	rs104886391
MSV3d	rs104886391
GWAS Ctlg	rs104886391

Max Magnitude

0

ClinVar
Risk	rs104886391(-;-)
Alt	rs104886391(-;-)
Reference	Rs104886391(TCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC;TCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107911601_107911672del72
CLNSRC	ClinVar
CLNACC	RCV000021544.1,

[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.