rs104886129

Orientation

plus

Stabilized

plus

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

Make rs104886129(C;C)

Make rs104886129(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108597461

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886129
dbSNP (classic)	rs104886129
ClinGen	rs104886129
ebi	rs104886129
HLI	rs104886129
Exac	rs104886129
Gnomad	rs104886129
Varsome	rs104886129
LitVar	rs104886129
Map	rs104886129
PheGenI	rs104886129
Biobank	rs104886129
1000 genomes	rs104886129
hgdp	rs104886129
ensembl	rs104886129
geneview	rs104886129
scholar	rs104886129
google	rs104886129
pharmgkb	rs104886129
gwascentral	rs104886129
openSNP	rs104886129
23andMe	rs104886129
SNPshot	rs104886129
SNPdbe	rs104886129
MSV3d	rs104886129
GWAS Ctlg	rs104886129

Max Magnitude

0

ClinVar
Risk	rs104886129(C;C)
Alt	rs104886129(C;C)
Reference	Rs104886129(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107840691G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021313.1,

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

OMIM	301050
Desc
Variant
Related	also