rs28939078

Orientation

plus

Stabilized

plus

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

Make rs28939078(A;A)

Make rs28939078(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

43717675

Gene

ABHD5

is a	snp
is	mentioned by
dbSNP	rs28939078
dbSNP (classic)	rs28939078
ClinGen	rs28939078
ebi	rs28939078
HLI	rs28939078
Exac	rs28939078
Gnomad	rs28939078
Varsome	rs28939078
LitVar	rs28939078
Map	rs28939078
PheGenI	rs28939078
Biobank	rs28939078
1000 genomes	rs28939078
hgdp	rs28939078
ensembl	rs28939078
geneview	rs28939078
scholar	rs28939078
google	rs28939078
pharmgkb	rs28939078
gwascentral	rs28939078
openSNP	rs28939078
23andMe	rs28939078
SNPshot	rs28939078
SNPdbe	rs28939078
MSV3d	rs28939078
GWAS Ctlg	rs28939078

Max Magnitude

0

OMIM	604780
Desc	TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID
Variant	0007
Related	also

ClinVar
Risk	rs28939078(A;A)
Alt	rs28939078(A;A)
Reference	Rs28939078(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.43759167G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005682.2,