rs104886245

Orientation

plus

Stabilized

plus

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

Make rs104886245(G;T)

Make rs104886245(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108668327

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886245
dbSNP (classic)	rs104886245
ClinGen	rs104886245
ebi	rs104886245
HLI	rs104886245
Exac	rs104886245
Gnomad	rs104886245
Varsome	rs104886245
LitVar	rs104886245
Map	rs104886245
PheGenI	rs104886245
Biobank	rs104886245
1000 genomes	rs104886245
hgdp	rs104886245
ensembl	rs104886245
geneview	rs104886245
scholar	rs104886245
google	rs104886245
pharmgkb	rs104886245
gwascentral	rs104886245
openSNP	rs104886245
23andMe	rs104886245
SNPshot	rs104886245
SNPdbe	rs104886245
MSV3d	rs104886245
GWAS Ctlg	rs104886245

Max Magnitude

0

ClinVar
Risk	rs104886245(A;A) rs104886245(T;T)
Alt	rs104886245(A;A) rs104886245(T;T)
Reference	Rs104886245(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107911557G>A; NC_000023.10:g.107911557G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021538.1, RCV000021537.1,

OMIM	301050
Desc
Variant
Related	also

[PMID 8940267] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

[PMID 20378821] Genotype-phenotype correlation in X-linked Alport syndrome.