rs794727957

Orientation

minus

Stabilized

minus

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

Make rs794727957(C;T)

Make rs794727957(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

36765068

Gene

HLCS

is a	snp
is	mentioned by
dbSNP	rs794727957
dbSNP (classic)	rs794727957
ClinGen	rs794727957
ebi	rs794727957
HLI	rs794727957
Exac	rs794727957
Gnomad	rs794727957
Varsome	rs794727957
LitVar	rs794727957
Map	rs794727957
PheGenI	rs794727957
Biobank	rs794727957
1000 genomes	rs794727957
hgdp	rs794727957
ensembl	rs794727957
geneview	rs794727957
scholar	rs794727957
google	rs794727957
pharmgkb	rs794727957
gwascentral	rs794727957
openSNP	rs794727957
23andMe	rs794727957
SNPshot	rs794727957
SNPdbe	rs794727957
MSV3d	rs794727957
GWAS Ctlg	rs794727957

Max Magnitude

0

ClinVar
Risk	rs794727957(T;T)
Alt	rs794727957(T;T)
Reference	Rs794727957(C;C)
Significance	Pathogenic
Disease	Holocarboxylase synthetase deficiency
Variation	info
Gene	HLCS
CLNDBN	Holocarboxylase synthetase deficiency
Reversed	1
HGVS	NC_000021.8:g.38137369G>A
CLNSRC
CLNACC	RCV000180500.1,