Have questions? Visit https://www.reddit.com/r/SNPedia

rs118203951

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203951(C;C)
Make rs118203951(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11274042
GeneUBIAD1
is asnp
is mentioned by
dbSNPrs118203951
ebirs118203951
HLIrs118203951
Exacrs118203951
Varsomers118203951
Maprs118203951
PheGenIrs118203951
hapmaprs118203951
1000 genomesrs118203951
hgdprs118203951
ensemblrs118203951
gopubmedrs118203951
geneviewrs118203951
scholarrs118203951
googlers118203951
pharmgkbrs118203951
gwascentralrs118203951
openSNPrs118203951
23andMers118203951
23andMe allrs118203951
SNP Nexus

SNPshotrs118203951
SNPdbers118203951
MSV3drs118203951
GWAS Ctlgrs118203951
Max Magnitude0
OMIM611632
Desc
Variant0007
Relatedalso
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
CLNACC RCV000000910.2,