rs121909534

Orientation

plus

Stabilized

plus

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

Make rs121909534(A;A)

Make rs121909534(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

30069384

Gene

ALDOA

is a	snp
is	mentioned by
dbSNP	rs121909534
dbSNP (classic)	rs121909534
ClinGen	rs121909534
ebi	rs121909534
HLI	rs121909534
Exac	rs121909534
Gnomad	rs121909534
Varsome	rs121909534
LitVar	rs121909534
Map	rs121909534
PheGenI	rs121909534
Biobank	rs121909534
1000 genomes	rs121909534
hgdp	rs121909534
ensembl	rs121909534
geneview	rs121909534
scholar	rs121909534
google	rs121909534
pharmgkb	rs121909534
gwascentral	rs121909534
openSNP	rs121909534
23andMe	rs121909534
SNPshot	rs121909534
SNPdbe	rs121909534
MSV3d	rs121909534
GWAS Ctlg	rs121909534

Max Magnitude

0

OMIM	103850
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121909534(A;A)
Alt	rs121909534(A;A)
Reference	Rs121909534(G;G)
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.30080705G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019809.27,