rs118203947

Orientation

plus

Stabilized

plus

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

Make rs118203947(A;G)

Make rs118203947(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11273886

Gene

UBIAD1

is a	snp
is	mentioned by
dbSNP	rs118203947
dbSNP (classic)	rs118203947
ClinGen	rs118203947
ebi	rs118203947
HLI	rs118203947
Exac	rs118203947
Gnomad	rs118203947
Varsome	rs118203947
LitVar	rs118203947
Map	rs118203947
PheGenI	rs118203947
Biobank	rs118203947
1000 genomes	rs118203947
hgdp	rs118203947
ensembl	rs118203947
geneview	rs118203947
scholar	rs118203947
google	rs118203947
pharmgkb	rs118203947
gwascentral	rs118203947
openSNP	rs118203947
23andMe	rs118203947
SNPshot	rs118203947
SNPdbe	rs118203947
MSV3d	rs118203947
GWAS Ctlg	rs118203947

Max Magnitude

0

OMIM	611632
Desc
Variant	0003
Related	also

ClinVar
Risk	rs118203947(G;G)
Alt	rs118203947(G;G)
Reference	Rs118203947(A;A)
Significance	Pathogenic
Disease	Schnyder crystalline corneal dystrophy
Variation	info
Gene	UBIAD1
CLNDBN	Schnyder crystalline corneal dystrophy
Reversed	0
HGVS	NC_000001.10:g.11333943A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000906.2,