rs119103229

Orientation

minus

Stabilized

minus

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

Make rs119103229(C;T)

Make rs119103229(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

36765170

Gene

HLCS

is a	snp
is	mentioned by
dbSNP	rs119103229
dbSNP (classic)	rs119103229
ClinGen	rs119103229
ebi	rs119103229
HLI	rs119103229
Exac	rs119103229
Gnomad	rs119103229
Varsome	rs119103229
LitVar	rs119103229
Map	rs119103229
PheGenI	rs119103229
Biobank	rs119103229
1000 genomes	rs119103229
hgdp	rs119103229
ensembl	rs119103229
geneview	rs119103229
scholar	rs119103229
google	rs119103229
pharmgkb	rs119103229
gwascentral	rs119103229
openSNP	rs119103229
23andMe	rs119103229
SNPshot	rs119103229
SNPdbe	rs119103229
MSV3d	rs119103229
GWAS Ctlg	rs119103229

Max Magnitude

0

OMIM	609018
Desc
Variant	0004
Related	also

ClinVar
Risk	rs119103229(T;T)
Alt	rs119103229(T;T)
Reference	Rs119103229(C;C)
Significance	Pathogenic
Disease	Holocarboxylase synthetase deficiency
Variation	info
Gene	HLCS
CLNDBN	Holocarboxylase synthetase deficiency
Reversed	1
HGVS	NC_000021.8:g.38137471G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001986.4,