rs104886192

Orientation

plus

Stabilized

plus

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

Make rs104886192(A;G)

Make rs104886192(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108621817

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886192
dbSNP (classic)	rs104886192
ClinGen	rs104886192
ebi	rs104886192
HLI	rs104886192
Exac	rs104886192
Gnomad	rs104886192
Varsome	rs104886192
LitVar	rs104886192
Map	rs104886192
PheGenI	rs104886192
Biobank	rs104886192
1000 genomes	rs104886192
hgdp	rs104886192
ensembl	rs104886192
geneview	rs104886192
scholar	rs104886192
google	rs104886192
pharmgkb	rs104886192
gwascentral	rs104886192
openSNP	rs104886192
23andMe	rs104886192
SNPshot	rs104886192
SNPdbe	rs104886192
MSV3d	rs104886192
GWAS Ctlg	rs104886192

Max Magnitude

0

ClinVar
Risk	rs104886192(G;G)
Alt	rs104886192(G;G)
Reference	Rs104886192(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107865047A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021433.1,

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

OMIM	301050
Desc
Variant
Related	also