rs104893676

Orientation

plus

Stabilized

plus

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

Make rs104893676(A;A)

Make rs104893676(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

43691011

Gene	ABHD5, ANO10

is a	snp
is	mentioned by
dbSNP	rs104893676
dbSNP (classic)	rs104893676
ClinGen	rs104893676
ebi	rs104893676
HLI	rs104893676
Exac	rs104893676
Gnomad	rs104893676
Varsome	rs104893676
LitVar	rs104893676
Map	rs104893676
PheGenI	rs104893676
Biobank	rs104893676
1000 genomes	rs104893676
hgdp	rs104893676
ensembl	rs104893676
geneview	rs104893676
scholar	rs104893676
google	rs104893676
pharmgkb	rs104893676
gwascentral	rs104893676
openSNP	rs104893676
23andMe	rs104893676
SNPshot	rs104893676
SNPdbe	rs104893676
MSV3d	rs104893676
GWAS Ctlg	rs104893676

GMAF

0.002296

Max Magnitude

0

OMIM	604780
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104893676(A;A)
Alt	rs104893676(A;A)
Reference	Rs104893676(G;G)
Significance	Pathogenic
Disease	Triglyceride storage disease with ichthyosis
Variation	info
Gene	ABHD5
CLNDBN	Triglyceride storage disease with ichthyosis
Reversed	0
HGVS	NC_000003.11:g.43732503G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005680.2,