rs121434329

Orientation

minus

Stabilized

minus

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

Make rs121434329(C;T)

Make rs121434329(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

95990472

Gene

HAL

is a	snp
is	mentioned by
dbSNP	rs121434329
dbSNP (classic)	rs121434329
ClinGen	rs121434329
ebi	rs121434329
HLI	rs121434329
Exac	rs121434329
Gnomad	rs121434329
Varsome	rs121434329
LitVar	rs121434329
Map	rs121434329
PheGenI	rs121434329
Biobank	rs121434329
1000 genomes	rs121434329
hgdp	rs121434329
ensembl	rs121434329
geneview	rs121434329
scholar	rs121434329
google	rs121434329
pharmgkb	rs121434329
gwascentral	rs121434329
openSNP	rs121434329
23andMe	rs121434329
SNPshot	rs121434329
SNPdbe	rs121434329
MSV3d	rs121434329
GWAS Ctlg	rs121434329

Max Magnitude

0

OMIM	609457
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121434329(T;T)
Alt	rs121434329(T;T)
Reference	Rs121434329(C;C)
Significance	Other
Disease	Histidinemia
Variation	info
Gene	HAL
CLNDBN	Histidinemia
Reversed	1
HGVS	NC_000012.11:g.96384250G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001759.3,