rs118203948

Orientation

plus

Stabilized

plus

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

Make rs118203948(C;T)

Make rs118203948(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11274055

Gene

UBIAD1

is a	snp
is	mentioned by
dbSNP	rs118203948
dbSNP (classic)	rs118203948
ClinGen	rs118203948
ebi	rs118203948
HLI	rs118203948
Exac	rs118203948
Gnomad	rs118203948
Varsome	rs118203948
LitVar	rs118203948
Map	rs118203948
PheGenI	rs118203948
Biobank	rs118203948
1000 genomes	rs118203948
hgdp	rs118203948
ensembl	rs118203948
geneview	rs118203948
scholar	rs118203948
google	rs118203948
pharmgkb	rs118203948
gwascentral	rs118203948
openSNP	rs118203948
23andMe	rs118203948
SNPshot	rs118203948
SNPdbe	rs118203948
MSV3d	rs118203948
GWAS Ctlg	rs118203948

Max Magnitude

0

OMIM	611632
Desc
Variant	0004
Related	also

ClinVar
Risk	rs118203948(T;T)
Alt	rs118203948(T;T)
Reference	Rs118203948(C;C)
Significance	Pathogenic
Disease	Schnyder crystalline corneal dystrophy
Variation	info
Gene	UBIAD1
CLNDBN	Schnyder crystalline corneal dystrophy
Reversed	0
HGVS	NC_000001.10:g.11334112C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000907.2,