rs137853596

Orientation

minus

Stabilized

minus

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

Make rs137853596(A;G)

Make rs137853596(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

18059424

Gene

ASAH1

is a	snp
is	mentioned by
dbSNP	rs137853596
dbSNP (classic)	rs137853596
ClinGen	rs137853596
ebi	rs137853596
HLI	rs137853596
Exac	rs137853596
Gnomad	rs137853596
Varsome	rs137853596
LitVar	rs137853596
Map	rs137853596
PheGenI	rs137853596
Biobank	rs137853596
1000 genomes	rs137853596
hgdp	rs137853596
ensembl	rs137853596
geneview	rs137853596
scholar	rs137853596
google	rs137853596
pharmgkb	rs137853596
gwascentral	rs137853596
openSNP	rs137853596
23andMe	rs137853596
SNPshot	rs137853596
SNPdbe	rs137853596
MSV3d	rs137853596
GWAS Ctlg	rs137853596

Max Magnitude

0

ClinVar
Risk	rs137853596(G;G)
Alt	rs137853596(G;G)
Reference	Rs137853596(A;A)
Significance	Pathogenic
Disease	Farber's lipogranulomatosis
Variation	info
Gene	ASAH1
CLNDBN	Farber's lipogranulomatosis
Reversed	1
HGVS	NC_000008.10:g.17916933T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000114.3,