rs201220208

Orientation

plus

Stabilized

plus

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

Make rs201220208(A;A)

Make rs201220208(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108692786

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs201220208
dbSNP (classic)	rs201220208
ClinGen	rs201220208
ebi	rs201220208
HLI	rs201220208
Exac	rs201220208
Gnomad	rs201220208
Varsome	rs201220208
LitVar	rs201220208
Map	rs201220208
PheGenI	rs201220208
Biobank	rs201220208
1000 genomes	rs201220208
hgdp	rs201220208
ensembl	rs201220208
geneview	rs201220208
scholar	rs201220208
google	rs201220208
pharmgkb	rs201220208
gwascentral	rs201220208
openSNP	rs201220208
23andMe	rs201220208
SNPshot	rs201220208
SNPdbe	rs201220208
MSV3d	rs201220208
GWAS Ctlg	rs201220208

Max Magnitude

0

ClinVar
Risk	rs201220208(A;A)
Alt	rs201220208(A;A)
Reference	Rs201220208(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107936016C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021628.1,

[PMID 8651296] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.