rs121434327

Orientation

minus

Stabilized

minus

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

Make rs121434327(C;C)

Make rs121434327(C;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

95992778

Gene

HAL

is a	snp
is	mentioned by
dbSNP	rs121434327
dbSNP (classic)	rs121434327
ClinGen	rs121434327
ebi	rs121434327
HLI	rs121434327
Exac	rs121434327
Gnomad	rs121434327
Varsome	rs121434327
LitVar	rs121434327
Map	rs121434327
PheGenI	rs121434327
Biobank	rs121434327
1000 genomes	rs121434327
hgdp	rs121434327
ensembl	rs121434327
geneview	rs121434327
scholar	rs121434327
google	rs121434327
pharmgkb	rs121434327
gwascentral	rs121434327
openSNP	rs121434327
23andMe	rs121434327
SNPshot	rs121434327
SNPdbe	rs121434327
MSV3d	rs121434327
GWAS Ctlg	rs121434327

Max Magnitude

0

OMIM	609457
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434327(A;A) rs121434327(C;C)
Alt	rs121434327(A;A) rs121434327(C;C)
Reference	Rs121434327(G;G)
Significance	Other
Disease	Histidinemia
Variation	info
Gene	HAL
CLNDBN	Histidinemia
Reversed	1
HGVS	NC_000012.11:g.96386556C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001757.3,