rs387906336

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AG;AG)	0	common in clinvar
(GA;GA)	0	common in clinvar
(I;I)	0	common genotype

Make rs387906336(-;-)

Make rs387906336(-;AG)

Reference

GRCh38 38.1/141

Chromosome

3

Position

43691038

Gene	ABHD5, ANO10

is a	snp
is	mentioned by
dbSNP	rs387906336
dbSNP (classic)	rs387906336
ClinGen	rs387906336
ebi	rs387906336
HLI	rs387906336
Exac	rs387906336
Gnomad	rs387906336
Varsome	rs387906336
LitVar	rs387906336
Map	rs387906336
PheGenI	rs387906336
Biobank	rs387906336
1000 genomes	rs387906336
hgdp	rs387906336
ensembl	rs387906336
geneview	rs387906336
scholar	rs387906336
google	rs387906336
pharmgkb	rs387906336
gwascentral	rs387906336
openSNP	rs387906336
23andMe	rs387906336
SNPshot	rs387906336
SNPdbe	rs387906336
MSV3d	rs387906336
GWAS Ctlg	rs387906336

Max Magnitude

0

ClinVar
Risk	rs387906336(-;-)
Alt	rs387906336(-;-)
Reference	Rs387906336(GA;GA)
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.43732530_43732531delAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005683.2,