rs397514483

Orientation

plus

Stabilized

plus

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

Make rs397514483(A;C)

Make rs397514483(C;C)

Reference

GRCh38 38.1/141

Chromosome

20

Position

9409166

Gene

PLCB4

is a	snp
is	mentioned by
dbSNP	rs397514483
dbSNP (classic)	rs397514483
ClinGen	rs397514483
ebi	rs397514483
HLI	rs397514483
Exac	rs397514483
Gnomad	rs397514483
Varsome	rs397514483
LitVar	rs397514483
Map	rs397514483
PheGenI	rs397514483
Biobank	rs397514483
1000 genomes	rs397514483
hgdp	rs397514483
ensembl	rs397514483
geneview	rs397514483
scholar	rs397514483
google	rs397514483
pharmgkb	rs397514483
gwascentral	rs397514483
openSNP	rs397514483
23andMe	rs397514483
SNPshot	rs397514483
SNPdbe	rs397514483
MSV3d	rs397514483
GWAS Ctlg	rs397514483

Max Magnitude

0

ClinVar
Risk	rs397514483(C;C)
Alt	rs397514483(C;C)
Reference	Rs397514483(A;A)
Significance	Pathogenic
Disease	Auriculocondylar syndrome 2 Auriculocondylar syndrome 1
Variation	info
Gene	PLCB4
CLNDBN	Auriculocondylar syndrome 2 Auriculocondylar syndrome 1
Reversed	0
HGVS	NC_000020.10:g.9389813A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024337.3, RCV000191055.1,