rs137853595

Orientation

minus

Stabilized

minus

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

Make rs137853595(A;G)

Make rs137853595(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

18075559

Gene

ASAH1

is a	snp
is	mentioned by
dbSNP	rs137853595
dbSNP (classic)	rs137853595
ClinGen	rs137853595
ebi	rs137853595
HLI	rs137853595
Exac	rs137853595
Gnomad	rs137853595
Varsome	rs137853595
LitVar	rs137853595
Map	rs137853595
PheGenI	rs137853595
Biobank	rs137853595
1000 genomes	rs137853595
hgdp	rs137853595
ensembl	rs137853595
geneview	rs137853595
scholar	rs137853595
google	rs137853595
pharmgkb	rs137853595
gwascentral	rs137853595
openSNP	rs137853595
23andMe	rs137853595
SNPshot	rs137853595
SNPdbe	rs137853595
MSV3d	rs137853595
GWAS Ctlg	rs137853595

Max Magnitude

0

ClinVar
Risk	rs137853595(G;G)
Alt	rs137853595(G;G)
Reference	Rs137853595(A;A)
Significance	Pathogenic
Disease	Farber's lipogranulomatosis
Variation	info
Gene	ASAH1
CLNDBN	Farber's lipogranulomatosis
Reversed	1
HGVS	NC_000008.10:g.17933068T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000113.3,