rs104886221

Orientation

plus

Stabilized

plus

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

Make rs104886221(C;C)

Make rs104886221(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108626300

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886221
dbSNP (classic)	rs104886221
ClinGen	rs104886221
ebi	rs104886221
HLI	rs104886221
Exac	rs104886221
Gnomad	rs104886221
Varsome	rs104886221
LitVar	rs104886221
Map	rs104886221
PheGenI	rs104886221
Biobank	rs104886221
1000 genomes	rs104886221
hgdp	rs104886221
ensembl	rs104886221
geneview	rs104886221
scholar	rs104886221
google	rs104886221
pharmgkb	rs104886221
gwascentral	rs104886221
openSNP	rs104886221
23andMe	rs104886221
SNPshot	rs104886221
SNPdbe	rs104886221
MSV3d	rs104886221
GWAS Ctlg	rs104886221

Max Magnitude

0

ClinVar
Risk	rs104886221(C;C)
Alt	rs104886221(C;C)
Reference	Rs104886221(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107869530G>C
CLNSRC	ARUP COL4A5
CLNACC	RCV000021483.1,

[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

OMIM	301050
Desc
Variant
Related	also