rs876657397

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CTGCCGCTCCTGCTGGTGCTCCTG;CTGCCGCTCCTGCTGGTGCTCCTG)	0	common in clinvar
(GGTGCTCCTGCTGCCGCTCCTGCT;GGTGCTCCTGCTGCCGCTCCTGCT)	0	common in clinvar

Make rs876657397(-;-)

Make rs876657397(-;CTGCCGCTCCTGCTGGTGCTCCTG)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

227164766

Gene	COL4A3, COL4A4

is a	snp
is	mentioned by
dbSNP	rs876657397
dbSNP (classic)	rs876657397
ClinGen	rs876657397
ebi	rs876657397
HLI	rs876657397
Exac	rs876657397
Gnomad	rs876657397
Varsome	rs876657397
LitVar	rs876657397
Map	rs876657397
PheGenI	rs876657397
Biobank	rs876657397
1000 genomes	rs876657397
hgdp	rs876657397
ensembl	rs876657397
geneview	rs876657397
scholar	rs876657397
google	rs876657397
pharmgkb	rs876657397
gwascentral	rs876657397
openSNP	rs876657397
23andMe	rs876657397
SNPshot	rs876657397
SNPdbe	rs876657397
MSV3d	rs876657397
GWAS Ctlg	rs876657397

Max Magnitude

0

ClinVar
Risk	rs876657397(-;-) Rs876657397(GGTGCTCCTGCTGCCGCTCCTGCT;GGTGCTCCTGCTGCCGCTCCTGCT)
Alt	rs876657397(-;-) Rs876657397(GGTGCTCCTGCTGCCGCTCCTGCT;GGTGCTCCTGCTGCCGCTCCTGCT)
Reference	Rs876657397(CTGCCGCTCCTGCTGGTGCTCCTG;CTGCCGCTCCTGCTGGTGCTCCTG)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A3 COL4A4
CLNDBN	Alport syndrome, autosomal recessive
Reversed	0
HGVS	NC_000002.11:g.228029482_228029505del24
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000172875.2,