rs121434582

Orientation

minus

Stabilized

minus

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

Make rs121434582(A;A)

Make rs121434582(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

95643044

Gene

ALDH18A1

is a	snp
is	mentioned by
dbSNP	rs121434582
dbSNP (classic)	rs121434582
ClinGen	rs121434582
ebi	rs121434582
HLI	rs121434582
Exac	rs121434582
Gnomad	rs121434582
Varsome	rs121434582
LitVar	rs121434582
Map	rs121434582
PheGenI	rs121434582
Biobank	rs121434582
1000 genomes	rs121434582
hgdp	rs121434582
ensembl	rs121434582
geneview	rs121434582
scholar	rs121434582
google	rs121434582
pharmgkb	rs121434582
gwascentral	rs121434582
openSNP	rs121434582
23andMe	rs121434582
SNPshot	rs121434582
SNPdbe	rs121434582
MSV3d	rs121434582
GWAS Ctlg	rs121434582

Max Magnitude

0

OMIM	138250
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434582(A;A) rs121434582(T;T)
Alt	rs121434582(A;A) rs121434582(T;T)
Reference	Rs121434582(G;G)
Significance	Pathogenic
Disease	Cutis laxa-corneal clouding-oligophrenia syndrome
Variation	info
Gene	ALDH18A1
CLNDBN	Cutis laxa-corneal clouding-oligophrenia syndrome
Reversed	1
HGVS	NC_000010.10:g.97402801C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017465.27,