rs398123033

Orientation

plus

Stabilized

plus

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

Make rs398123033(A;C)

Make rs398123033(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

6364517

Gene

CLPP

is a	snp
is	mentioned by
dbSNP	rs398123033
dbSNP (classic)	rs398123033
ClinGen	rs398123033
ebi	rs398123033
HLI	rs398123033
Exac	rs398123033
Gnomad	rs398123033
Varsome	rs398123033
LitVar	rs398123033
Map	rs398123033
PheGenI	rs398123033
Biobank	rs398123033
1000 genomes	rs398123033
hgdp	rs398123033
ensembl	rs398123033
geneview	rs398123033
scholar	rs398123033
google	rs398123033
pharmgkb	rs398123033
gwascentral	rs398123033
openSNP	rs398123033
23andMe	rs398123033
SNPshot	rs398123033
SNPdbe	rs398123033
MSV3d	rs398123033
GWAS Ctlg	rs398123033

Max Magnitude

0

ClinVar
Risk	rs398123033(C;C)
Alt	rs398123033(C;C)
Reference	Rs398123033(A;A)
Significance	Pathogenic
Disease	Perrault syndrome 3
Variation	info
Gene	CLPP
CLNDBN	Perrault syndrome 3
Reversed	0
HGVS	NC_000019.9:g.6364528A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000049282.3,