rs104886371

Orientation

plus

Stabilized

plus

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

Make rs104886371(C;C)

Make rs104886371(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108622826

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886371
dbSNP (classic)	rs104886371
ClinGen	rs104886371
ebi	rs104886371
HLI	rs104886371
Exac	rs104886371
Gnomad	rs104886371
Varsome	rs104886371
LitVar	rs104886371
Map	rs104886371
PheGenI	rs104886371
Biobank	rs104886371
1000 genomes	rs104886371
hgdp	rs104886371
ensembl	rs104886371
geneview	rs104886371
scholar	rs104886371
google	rs104886371
pharmgkb	rs104886371
gwascentral	rs104886371
openSNP	rs104886371
23andMe	rs104886371
SNPshot	rs104886371
SNPdbe	rs104886371
MSV3d	rs104886371
GWAS Ctlg	rs104886371

Max Magnitude

0

ClinVar
Risk	rs104886371(C;C) rs104886371(T;T)
Alt	rs104886371(C;C) rs104886371(T;T)
Reference	Rs104886371(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107866056G>C; NC_000023.10:g.107866056G>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021453.1, RCV000021454.1,

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

OMIM	301050
Desc
Variant
Related	also

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