rs2070075

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(C;T)	0	Apparently benign variant
(T;T)	0	Apparently benign variant

Reference

GRCh38 38.1/141

Chromosome

9

Position

34648421

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs2070075
dbSNP (classic)	rs2070075
ClinGen	rs2070075
ebi	rs2070075
HLI	rs2070075
Exac	rs2070075
Gnomad	rs2070075
Varsome	rs2070075
LitVar	rs2070075
Map	rs2070075
PheGenI	rs2070075
Biobank	rs2070075
1000 genomes	rs2070075
hgdp	rs2070075
ensembl	rs2070075
geneview	rs2070075
scholar	rs2070075
google	rs2070075
pharmgkb	rs2070075
gwascentral	rs2070075
openSNP	rs2070075
23andMe	rs2070075
SNPshot	rs2070075
SNPdbe	rs2070075
MSV3d	rs2070075
GWAS Ctlg	rs2070075

GMAF

0.01607

Max Magnitude

0

rs2070075, also known as c.652C>T or p.Leu218=, is currently noted in ClinVar as being a benign variant (in the GALT gene).

?	(C;C) (C;T) (T;T)	28

OMIM	606999
Desc	LOS ANGELES VARIANT
Variant	0012
Related	also

ClinVar
Risk	rs2070075(G;G) Rs2070075(T;T)
Alt	rs2070075(G;G) Rs2070075(T;T)
Reference	Rs2070075(C;C)
Significance	Other
Disease	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not specified GALT POLYMORPHISM (LOS ANGELES not provided Galactosemia
Variation	info
Gene	GALT
CLNDBN	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not specified GALT POLYMORPHISM (LOS ANGELES, D1) not provided Galactosemia
Reversed	0
HGVS	NC_000009.11:g.34648418C>G; NC_000009.11:g.34648418C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022175.1, RCV000337575.1, RCV000003804.2, RCV000032587.1, RCV000078233.6, RCV000298701.1,

[PMID 10408771] Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

[PMID 10424825] Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.