rs138207257

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Carrier of a primary hyperoxaluria type III mutation

Make rs138207257(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

97611535

Gene

HOGA1

is a	snp
is	mentioned by
dbSNP	rs138207257
dbSNP (classic)	rs138207257
ClinGen	rs138207257
ebi	rs138207257
HLI	rs138207257
Exac	rs138207257
Gnomad	rs138207257
Varsome	rs138207257
LitVar	rs138207257
Map	rs138207257
PheGenI	rs138207257
Biobank	rs138207257
1000 genomes	rs138207257
hgdp	rs138207257
ensembl	rs138207257
geneview	rs138207257
scholar	rs138207257
google	rs138207257
pharmgkb	rs138207257
gwascentral	rs138207257
openSNP	rs138207257
23andMe	rs138207257
SNPshot	rs138207257
SNPdbe	rs138207257
MSV3d	rs138207257
GWAS Ctlg	rs138207257

Max Magnitude

3

aka c.860G>T (p.Gly287Val or G287V)

ClinVar
Risk	rs138207257(A;A) rs138207257(T;T)
Alt	rs138207257(A;A) rs138207257(T;T)
Reference	Rs138207257(G;G)
Significance	Pathogenic
Disease	Primary hyperoxaluria
Variation	info
Gene	HOGA1
CLNDBN	Primary hyperoxaluria, type III
Reversed	0
HGVS	NC_000010.10:g.99371292G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000047.2,