rs121909533

Orientation

plus

Stabilized

plus

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

Make rs121909533(A;G)

Make rs121909533(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

30068824

Gene

ALDOA

is a	snp
is	mentioned by
dbSNP	rs121909533
dbSNP (classic)	rs121909533
ClinGen	rs121909533
ebi	rs121909533
HLI	rs121909533
Exac	rs121909533
Gnomad	rs121909533
Varsome	rs121909533
LitVar	rs121909533
Map	rs121909533
PheGenI	rs121909533
Biobank	rs121909533
1000 genomes	rs121909533
hgdp	rs121909533
ensembl	rs121909533
geneview	rs121909533
scholar	rs121909533
google	rs121909533
pharmgkb	rs121909533
gwascentral	rs121909533
openSNP	rs121909533
23andMe	rs121909533
SNPshot	rs121909533
SNPdbe	rs121909533
MSV3d	rs121909533
GWAS Ctlg	rs121909533

Max Magnitude

0

OMIM	103850
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909533(G;G)
Alt	rs121909533(G;G)
Reference	Rs121909533(A;A)
Significance	Pathogenic
Disease	HNSHA due to aldolase A deficiency
Variation	info
Gene	ALDOA
CLNDBN	HNSHA due to aldolase A deficiency
Reversed	0
HGVS	NC_000016.9:g.30080145A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019808.28,