rs104886157

Orientation

plus

Stabilized

plus

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

Make rs104886157(A;A)

Make rs104886157(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108601467

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886157
dbSNP (classic)	rs104886157
ClinGen	rs104886157
ebi	rs104886157
HLI	rs104886157
Exac	rs104886157
Gnomad	rs104886157
Varsome	rs104886157
LitVar	rs104886157
Map	rs104886157
PheGenI	rs104886157
Biobank	rs104886157
1000 genomes	rs104886157
hgdp	rs104886157
ensembl	rs104886157
geneview	rs104886157
scholar	rs104886157
google	rs104886157
pharmgkb	rs104886157
gwascentral	rs104886157
openSNP	rs104886157
23andMe	rs104886157
SNPshot	rs104886157
SNPdbe	rs104886157
MSV3d	rs104886157
GWAS Ctlg	rs104886157

Max Magnitude

0

ClinVar
Risk	rs104886157(A;A)
Alt	rs104886157(A;A)
Reference	Rs104886157(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107844697G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021353.1,

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

OMIM	301050
Desc
Variant
Related	also