rs28934602

Orientation

minus

Stabilized

minus

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

Make rs28934602(G;G)

Make rs28934602(G;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

36936798

Gene

HLCS

is a	snp
is	mentioned by
dbSNP	rs28934602
dbSNP (classic)	rs28934602
ClinGen	rs28934602
ebi	rs28934602
HLI	rs28934602
Exac	rs28934602
Gnomad	rs28934602
Varsome	rs28934602
LitVar	rs28934602
Map	rs28934602
PheGenI	rs28934602
Biobank	rs28934602
1000 genomes	rs28934602
hgdp	rs28934602
ensembl	rs28934602
geneview	rs28934602
scholar	rs28934602
google	rs28934602
pharmgkb	rs28934602
gwascentral	rs28934602
openSNP	rs28934602
23andMe	rs28934602
SNPshot	rs28934602
SNPdbe	rs28934602
MSV3d	rs28934602
GWAS Ctlg	rs28934602

Max Magnitude

0

OMIM	609018
Desc	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Variant	0009
Related	also

ClinVar
Risk	rs28934602(G;G)
Alt	rs28934602(G;G)
Reference	Rs28934602(T;T)
Significance	Pathogenic
Disease	Holocarboxylase synthetase deficiency
Variation	info
Gene	HLCS
CLNDBN	Holocarboxylase synthetase deficiency
Reversed	1
HGVS	NC_000021.8:g.38309098A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001991.2,