rs137853594

Orientation

minus

Stabilized

minus

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

Make rs137853594(A;T)

Make rs137853594(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

18064501

Gene

ASAH1

is a	snp
is	mentioned by
dbSNP	rs137853594
dbSNP (classic)	rs137853594
ClinGen	rs137853594
ebi	rs137853594
HLI	rs137853594
Exac	rs137853594
Gnomad	rs137853594
Varsome	rs137853594
LitVar	rs137853594
Map	rs137853594
PheGenI	rs137853594
Biobank	rs137853594
1000 genomes	rs137853594
hgdp	rs137853594
ensembl	rs137853594
geneview	rs137853594
scholar	rs137853594
google	rs137853594
pharmgkb	rs137853594
gwascentral	rs137853594
openSNP	rs137853594
23andMe	rs137853594
SNPshot	rs137853594
SNPdbe	rs137853594
MSV3d	rs137853594
GWAS Ctlg	rs137853594

Merged from

Rs28934273

Max Magnitude

0

ClinVar
Risk	rs137853594(T;T)
Alt	rs137853594(T;T)
Reference	Rs137853594(A;A)
Significance	Pathogenic
Disease	Farber's lipogranulomatosis
Variation	info
Gene	ASAH1
CLNDBN	Farber's lipogranulomatosis
Reversed	1
HGVS	NC_000008.10:g.17922010T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000112.3,