rs104886050

Orientation

plus

Stabilized

plus

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

Make rs104886050(A;G)

Make rs104886050(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108440126

Gene	COL4A5, COL4A6

is a	snp
is	mentioned by
dbSNP	rs104886050
dbSNP (classic)	rs104886050
ClinGen	rs104886050
ebi	rs104886050
HLI	rs104886050
Exac	rs104886050
Gnomad	rs104886050
Varsome	rs104886050
LitVar	rs104886050
Map	rs104886050
PheGenI	rs104886050
Biobank	rs104886050
1000 genomes	rs104886050
hgdp	rs104886050
ensembl	rs104886050
geneview	rs104886050
scholar	rs104886050
google	rs104886050
pharmgkb	rs104886050
gwascentral	rs104886050
openSNP	rs104886050
23andMe	rs104886050
SNPshot	rs104886050
SNPdbe	rs104886050
MSV3d	rs104886050
GWAS Ctlg	rs104886050

Max Magnitude

0

ClinVar
Risk	rs104886050(G;G)
Alt	rs104886050(G;G)
Reference	Rs104886050(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5 COL4A6
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107683356A>G
CLNSRC	ARUP COL4A5
CLNACC	RCV000021092.1,

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

OMIM	301050
Desc
Variant
Related	also