rs104886193

Orientation

plus

Stabilized

plus

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

Make rs104886193(A;G)

Make rs104886193(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108621871

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886193
dbSNP (classic)	rs104886193
ClinGen	rs104886193
ebi	rs104886193
HLI	rs104886193
Exac	rs104886193
Gnomad	rs104886193
Varsome	rs104886193
LitVar	rs104886193
Map	rs104886193
PheGenI	rs104886193
Biobank	rs104886193
1000 genomes	rs104886193
hgdp	rs104886193
ensembl	rs104886193
geneview	rs104886193
scholar	rs104886193
google	rs104886193
pharmgkb	rs104886193
gwascentral	rs104886193
openSNP	rs104886193
23andMe	rs104886193
SNPshot	rs104886193
SNPdbe	rs104886193
MSV3d	rs104886193
GWAS Ctlg	rs104886193

Max Magnitude

0

ClinVar
Risk	rs104886193(G;G)
Alt	rs104886193(G;G)
Reference	Rs104886193(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107865101A>G
CLNSRC	ARUP COL4A5
CLNACC	RCV000021440.1,

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

OMIM	301050
Desc
Variant
Related	also