rs28939077

Orientation

plus

Stabilized

plus

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

Make rs28939077(A;C)

Make rs28939077(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

43702470

Gene

ABHD5

is a	snp
is	mentioned by
dbSNP	rs28939077
dbSNP (classic)	rs28939077
ClinGen	rs28939077
ebi	rs28939077
HLI	rs28939077
Exac	rs28939077
Gnomad	rs28939077
Varsome	rs28939077
LitVar	rs28939077
Map	rs28939077
PheGenI	rs28939077
Biobank	rs28939077
1000 genomes	rs28939077
hgdp	rs28939077
ensembl	rs28939077
geneview	rs28939077
scholar	rs28939077
google	rs28939077
pharmgkb	rs28939077
gwascentral	rs28939077
openSNP	rs28939077
23andMe	rs28939077
SNPshot	rs28939077
SNPdbe	rs28939077
MSV3d	rs28939077
GWAS Ctlg	rs28939077

Max Magnitude

0

OMIM	604780
Desc	TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID
Variant	0004
Related	also

ClinVar
Risk	rs28939077(C;C)
Alt	rs28939077(C;C)
Reference	Rs28939077(A;A)
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.43743962A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005679.2,