rs193922693

Orientation

plus

Stabilized

plus

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

Make rs193922693(A;G)

Make rs193922693(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

73448392

Gene

ALMS1

is a	snp
is	mentioned by
dbSNP	rs193922693
dbSNP (classic)	rs193922693
ClinGen	rs193922693
ebi	rs193922693
HLI	rs193922693
Exac	rs193922693
Gnomad	rs193922693
Varsome	rs193922693
LitVar	rs193922693
Map	rs193922693
PheGenI	rs193922693
Biobank	rs193922693
1000 genomes	rs193922693
hgdp	rs193922693
ensembl	rs193922693
geneview	rs193922693
scholar	rs193922693
google	rs193922693
pharmgkb	rs193922693
gwascentral	rs193922693
openSNP	rs193922693
23andMe	rs193922693
SNPshot	rs193922693
SNPdbe	rs193922693
MSV3d	rs193922693
GWAS Ctlg	rs193922693

Max Magnitude

0

ClinVar
Risk	rs193922693(G;G)
Alt	rs193922693(G;G)
Reference	Rs193922693(A;A)
Significance	Probable-Pathogenic
Disease	Cardiomyopathy Alstrom syndrome
Variation	info
Gene	ALMS1
CLNDBN	Cardiomyopathy Alstrom syndrome
Reversed	0
HGVS	NC_000002.11:g.73675519A>G
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029324.1, RCV000317177.1,