rs193919339

Orientation

plus

Stabilized

plus

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

Make rs193919339(A;A)

Make rs193919339(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

73572866

Gene

ALMS1

is a	snp
is	mentioned by
dbSNP	rs193919339
dbSNP (classic)	rs193919339
ClinGen	rs193919339
ebi	rs193919339
HLI	rs193919339
Exac	rs193919339
Gnomad	rs193919339
Varsome	rs193919339
LitVar	rs193919339
Map	rs193919339
PheGenI	rs193919339
Biobank	rs193919339
1000 genomes	rs193919339
hgdp	rs193919339
ensembl	rs193919339
geneview	rs193919339
scholar	rs193919339
google	rs193919339
pharmgkb	rs193919339
gwascentral	rs193919339
openSNP	rs193919339
23andMe	rs193919339
SNPshot	rs193919339
SNPdbe	rs193919339
MSV3d	rs193919339
GWAS Ctlg	rs193919339

Max Magnitude

0

ClinVar
Risk	rs193919339(A;A)
Alt	rs193919339(A;A)
Reference	Rs193919339(G;G)
Significance	Pathogenic
Disease	Alstrom syndrome
Variation	info
Gene	ALMS1
CLNDBN	Alstrom syndrome
Reversed	0
HGVS	NC_000002.11:g.73799993G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004180.3,