rs104886240

Orientation

plus

Stabilized

plus

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

Make rs104886240(A;A)

Make rs104886240(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108666576

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886240
dbSNP (classic)	rs104886240
ClinGen	rs104886240
ebi	rs104886240
HLI	rs104886240
Exac	rs104886240
Gnomad	rs104886240
Varsome	rs104886240
LitVar	rs104886240
Map	rs104886240
PheGenI	rs104886240
Biobank	rs104886240
1000 genomes	rs104886240
hgdp	rs104886240
ensembl	rs104886240
geneview	rs104886240
scholar	rs104886240
google	rs104886240
pharmgkb	rs104886240
gwascentral	rs104886240
openSNP	rs104886240
23andMe	rs104886240
SNPshot	rs104886240
SNPdbe	rs104886240
MSV3d	rs104886240
GWAS Ctlg	rs104886240

Max Magnitude

0

ClinVar
Risk	rs104886240(A;A)
Alt	rs104886240(A;A)
Reference	Rs104886240(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107909806G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021521.1,

[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM	301050
Desc
Variant
Related	also