rs104886255

Orientation

plus

Stabilized

plus

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

Make rs104886255(G;T)

Make rs104886255(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108668435

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886255
dbSNP (classic)	rs104886255
ClinGen	rs104886255
ebi	rs104886255
HLI	rs104886255
Exac	rs104886255
Gnomad	rs104886255
Varsome	rs104886255
LitVar	rs104886255
Map	rs104886255
PheGenI	rs104886255
Biobank	rs104886255
1000 genomes	rs104886255
hgdp	rs104886255
ensembl	rs104886255
geneview	rs104886255
scholar	rs104886255
google	rs104886255
pharmgkb	rs104886255
gwascentral	rs104886255
openSNP	rs104886255
23andMe	rs104886255
SNPshot	rs104886255
SNPdbe	rs104886255
MSV3d	rs104886255
GWAS Ctlg	rs104886255

Max Magnitude

0

ClinVar
Risk	rs104886255(T;T)
Alt	rs104886255(T;T)
Reference	Rs104886255(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107911665G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021555.1,

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

OMIM	301050
Desc
Variant
Related	also