rs753887925

Orientation

plus

Stabilized

plus

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

Make rs753887925(C;T)

Make rs753887925(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

36767213

Gene

HLCS

is a	snp
is	mentioned by
dbSNP	rs753887925
dbSNP (classic)	rs753887925
ClinGen	rs753887925
ebi	rs753887925
HLI	rs753887925
Exac	rs753887925
Gnomad	rs753887925
Varsome	rs753887925
LitVar	rs753887925
Map	rs753887925
PheGenI	rs753887925
Biobank	rs753887925
1000 genomes	rs753887925
hgdp	rs753887925
ensembl	rs753887925
geneview	rs753887925
scholar	rs753887925
google	rs753887925
pharmgkb	rs753887925
gwascentral	rs753887925
openSNP	rs753887925
23andMe	rs753887925
SNPshot	rs753887925
SNPdbe	rs753887925
MSV3d	rs753887925
GWAS Ctlg	rs753887925

Max Magnitude

0

ClinVar
Risk	rs753887925(T;T)
Alt	rs753887925(T;T)
Reference	Rs753887925(C;C)
Significance	Pathogenic
Disease	Holocarboxylase synthetase deficiency
Variation	info
Gene	HLCS
CLNDBN	Holocarboxylase synthetase deficiency
Reversed	0
HGVS	NC_000021.8:g.38139514C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001989.4,