rs121434583

Orientation

minus

Stabilized

minus

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

Make rs121434583(C;T)

Make rs121434583(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

95606800

Gene

ALDH18A1

is a	snp
is	mentioned by
dbSNP	rs121434583
dbSNP (classic)	rs121434583
ClinGen	rs121434583
ebi	rs121434583
HLI	rs121434583
Exac	rs121434583
Gnomad	rs121434583
Varsome	rs121434583
LitVar	rs121434583
Map	rs121434583
PheGenI	rs121434583
Biobank	rs121434583
1000 genomes	rs121434583
hgdp	rs121434583
ensembl	rs121434583
geneview	rs121434583
scholar	rs121434583
google	rs121434583
pharmgkb	rs121434583
gwascentral	rs121434583
openSNP	rs121434583
23andMe	rs121434583
SNPshot	rs121434583
SNPdbe	rs121434583
MSV3d	rs121434583
GWAS Ctlg	rs121434583

Max Magnitude

0

OMIM	138250
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434583(T;T)
Alt	rs121434583(T;T)
Reference	Rs121434583(C;C)
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.97366557G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017466.27,