rs104893675

Orientation

plus

Stabilized

plus

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

Make rs104893675(C;G)

Make rs104893675(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

43699326

Gene

ABHD5

is a	snp
is	mentioned by
dbSNP	rs104893675
dbSNP (classic)	rs104893675
ClinGen	rs104893675
ebi	rs104893675
HLI	rs104893675
Exac	rs104893675
Gnomad	rs104893675
Varsome	rs104893675
LitVar	rs104893675
Map	rs104893675
PheGenI	rs104893675
Biobank	rs104893675
1000 genomes	rs104893675
hgdp	rs104893675
ensembl	rs104893675
geneview	rs104893675
scholar	rs104893675
google	rs104893675
pharmgkb	rs104893675
gwascentral	rs104893675
openSNP	rs104893675
23andMe	rs104893675
SNPshot	rs104893675
SNPdbe	rs104893675
MSV3d	rs104893675
GWAS Ctlg	rs104893675

Max Magnitude

0

OMIM	604780
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104893675(G;G)
Alt	rs104893675(G;G)
Reference	Rs104893675(C;C)
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.43740818C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005677.2,