rs200455852

Orientation

plus

Stabilized

plus

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

Make rs200455852(G;G)

Make rs200455852(G;T)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

18064458

Gene

ASAH1

is a	snp
is	mentioned by
dbSNP	rs200455852
dbSNP (classic)	rs200455852
ClinGen	rs200455852
ebi	rs200455852
HLI	rs200455852
Exac	rs200455852
Gnomad	rs200455852
Varsome	rs200455852
LitVar	rs200455852
Map	rs200455852
PheGenI	rs200455852
Biobank	rs200455852
1000 genomes	rs200455852
hgdp	rs200455852
ensembl	rs200455852
geneview	rs200455852
scholar	rs200455852
google	rs200455852
pharmgkb	rs200455852
gwascentral	rs200455852
openSNP	rs200455852
23andMe	rs200455852
SNPshot	rs200455852
SNPdbe	rs200455852
MSV3d	rs200455852
GWAS Ctlg	rs200455852

Max Magnitude

0

ClinVar
Risk	rs200455852(C;C) rs200455852(G;G)
Alt	rs200455852(C;C) rs200455852(G;G)
Reference	Rs200455852(T;T)
Significance	Other
Disease	Jankovic Rivera syndrome
Variation	info
Gene	ASAH1
CLNDBN	Jankovic Rivera syndrome
Reversed	0
HGVS	NC_000008.10:g.17921967T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000157605.3,