rs118203951

Orientation

plus

Stabilized

plus

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

Make rs118203951(C;C)

Make rs118203951(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11274042

Gene

UBIAD1

is a	snp
is	mentioned by
dbSNP	rs118203951
dbSNP (classic)	rs118203951
ClinGen	rs118203951
ebi	rs118203951
HLI	rs118203951
Exac	rs118203951
Gnomad	rs118203951
Varsome	rs118203951
LitVar	rs118203951
Map	rs118203951
PheGenI	rs118203951
Biobank	rs118203951
1000 genomes	rs118203951
hgdp	rs118203951
ensembl	rs118203951
geneview	rs118203951
scholar	rs118203951
google	rs118203951
pharmgkb	rs118203951
gwascentral	rs118203951
openSNP	rs118203951
23andMe	rs118203951
SNPshot	rs118203951
SNPdbe	rs118203951
MSV3d	rs118203951
GWAS Ctlg	rs118203951

Max Magnitude

0

OMIM	611632
Desc
Variant	0007
Related	also

ClinVar
Risk	rs118203951(C;C)
Alt	rs118203951(C;C)
Reference	Rs118203951(T;T)
Significance	Pathogenic
Disease	Schnyder crystalline corneal dystrophy
Variation	info
Gene	UBIAD1
CLNDBN	Schnyder crystalline corneal dystrophy
Reversed	0
HGVS	NC_000001.10:g.11334099T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000910.2,