rs193919340

Orientation

plus

Stabilized

plus

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

Make rs193919340(C;T)

Make rs193919340(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

73490120

Gene

ALMS1

is a	snp
is	mentioned by
dbSNP	rs193919340
dbSNP (classic)	rs193919340
ClinGen	rs193919340
ebi	rs193919340
HLI	rs193919340
Exac	rs193919340
Gnomad	rs193919340
Varsome	rs193919340
LitVar	rs193919340
Map	rs193919340
PheGenI	rs193919340
Biobank	rs193919340
1000 genomes	rs193919340
hgdp	rs193919340
ensembl	rs193919340
geneview	rs193919340
scholar	rs193919340
google	rs193919340
pharmgkb	rs193919340
gwascentral	rs193919340
openSNP	rs193919340
23andMe	rs193919340
SNPshot	rs193919340
SNPdbe	rs193919340
MSV3d	rs193919340
GWAS Ctlg	rs193919340

Max Magnitude

0

ClinVar
Risk	rs193919340(T;T)
Alt	rs193919340(T;T)
Reference	Rs193919340(C;C)
Significance	Pathogenic
Disease	Alstrom syndrome
Variation	info
Gene	ALMS1
CLNDBN	Alstrom syndrome
Reversed	0
HGVS	NC_000002.11:g.73717247C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004181.3,