rs104886438

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(A;A)	0	common in clinvar

Make rs104886438(-;G)

Make rs104886438(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108578080

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886438
dbSNP (classic)	rs104886438
ClinGen	rs104886438
ebi	rs104886438
HLI	rs104886438
Exac	rs104886438
Gnomad	rs104886438
Varsome	rs104886438
LitVar	rs104886438
Map	rs104886438
PheGenI	rs104886438
Biobank	rs104886438
1000 genomes	rs104886438
hgdp	rs104886438
ensembl	rs104886438
geneview	rs104886438
scholar	rs104886438
google	rs104886438
pharmgkb	rs104886438
gwascentral	rs104886438
openSNP	rs104886438
23andMe	rs104886438
SNPshot	rs104886438
SNPdbe	rs104886438
MSV3d	rs104886438
GWAS Ctlg	rs104886438

Max Magnitude

0

ClinVar
Risk	rs104886438(G;G) rs104886438(GG;GG)
Alt	rs104886438(G;G) rs104886438(GG;GG)
Reference	Rs104886438(-;-)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107821309_107821310dupGG; NC_000023.10:g.107821310dupG
CLNSRC	ClinVar
CLNACC	RCV000021187.1, RCV000021188.1,

OMIM	301050
Desc
Variant
Related	also

[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.