rs119103231

Orientation

minus

Stabilized

minus

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

Make rs119103231(A;A)

Make rs119103231(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

36765044

Gene

HLCS

is a	snp
is	mentioned by
dbSNP	rs119103231
dbSNP (classic)	rs119103231
ClinGen	rs119103231
ebi	rs119103231
HLI	rs119103231
Exac	rs119103231
Gnomad	rs119103231
Varsome	rs119103231
LitVar	rs119103231
Map	rs119103231
PheGenI	rs119103231
Biobank	rs119103231
1000 genomes	rs119103231
hgdp	rs119103231
ensembl	rs119103231
geneview	rs119103231
scholar	rs119103231
google	rs119103231
pharmgkb	rs119103231
gwascentral	rs119103231
openSNP	rs119103231
23andMe	rs119103231
SNPshot	rs119103231
SNPdbe	rs119103231
MSV3d	rs119103231
GWAS Ctlg	rs119103231

Max Magnitude

0

OMIM	609018
Desc
Variant	0006
Related	also

ClinVar
Risk	rs119103231(A;A)
Alt	rs119103231(A;A)
Reference	Rs119103231(G;G)
Significance	Pathogenic
Disease	Holocarboxylase synthetase deficiency not provided
Variation	info
Gene	HLCS
CLNDBN	Holocarboxylase synthetase deficiency not provided
Reversed	1
HGVS	NC_000021.8:g.38137345C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001988.3, RCV000185961.3,