rs104886252

Orientation

plus

Stabilized

plus

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

Make rs104886252(G;T)

Make rs104886252(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108668382

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886252
dbSNP (classic)	rs104886252
ClinGen	rs104886252
ebi	rs104886252
HLI	rs104886252
Exac	rs104886252
Gnomad	rs104886252
Varsome	rs104886252
LitVar	rs104886252
Map	rs104886252
PheGenI	rs104886252
Biobank	rs104886252
1000 genomes	rs104886252
hgdp	rs104886252
ensembl	rs104886252
geneview	rs104886252
scholar	rs104886252
google	rs104886252
pharmgkb	rs104886252
gwascentral	rs104886252
openSNP	rs104886252
23andMe	rs104886252
SNPshot	rs104886252
SNPdbe	rs104886252
MSV3d	rs104886252
GWAS Ctlg	rs104886252

Max Magnitude

0

ClinVar
Risk	rs104886252(T;T)
Alt	rs104886252(T;T)
Reference	Rs104886252(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107911612G>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021546.1,

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

OMIM	301050
Desc
Variant
Related	also