rs104886140

Orientation

plus

Stabilized

plus

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

Make rs104886140(G;T)

Make rs104886140(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108598748

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886140
dbSNP (classic)	rs104886140
ClinGen	rs104886140
ebi	rs104886140
HLI	rs104886140
Exac	rs104886140
Gnomad	rs104886140
Varsome	rs104886140
LitVar	rs104886140
Map	rs104886140
PheGenI	rs104886140
Biobank	rs104886140
1000 genomes	rs104886140
hgdp	rs104886140
ensembl	rs104886140
geneview	rs104886140
scholar	rs104886140
google	rs104886140
pharmgkb	rs104886140
gwascentral	rs104886140
openSNP	rs104886140
23andMe	rs104886140
SNPshot	rs104886140
SNPdbe	rs104886140
MSV3d	rs104886140
GWAS Ctlg	rs104886140

Max Magnitude

0

ClinVar
Risk	rs104886140(T;T)
Alt	rs104886140(T;T)
Reference	Rs104886140(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107841978G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021331.1,

[PMID 9195222] The clinical spectrum of type IV collagen mutations.