rs1057516035

Orientation

minus

Stabilized

minus

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

Make rs1057516035(C;C)

Make rs1057516035(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

36936723

Gene

HLCS

is a	snp
is	mentioned by
dbSNP	rs1057516035
dbSNP (classic)	rs1057516035
ClinGen	rs1057516035
ebi	rs1057516035
HLI	rs1057516035
Exac	rs1057516035
Gnomad	rs1057516035
Varsome	rs1057516035
LitVar	rs1057516035
Map	rs1057516035
PheGenI	rs1057516035
Biobank	rs1057516035
1000 genomes	rs1057516035
hgdp	rs1057516035
ensembl	rs1057516035
geneview	rs1057516035
scholar	rs1057516035
google	rs1057516035
pharmgkb	rs1057516035
gwascentral	rs1057516035
openSNP	rs1057516035
23andMe	rs1057516035
SNPshot	rs1057516035
SNPdbe	rs1057516035
MSV3d	rs1057516035
GWAS Ctlg	rs1057516035

Max Magnitude

0

ClinVar
Risk	rs1057516035(C;C)
Alt	rs1057516035(C;C)
Reference	Rs1057516035(G;G)
Significance	Probable-Pathogenic
Disease	Holocarboxylase synthetase deficiency
Variation	info
Gene	HLCS
CLNDBN	Holocarboxylase synthetase deficiency
Reversed	1
HGVS	NC_000021.8:g.38309023C>G
CLNSRC
CLNACC	RCV000408618.1,