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rs118203952

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203952(A;A)
Make rs118203952(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11285670
GeneUBIAD1
is asnp
is mentioned by
dbSNPrs118203952
ebirs118203952
HLIrs118203952
Exacrs118203952
Varsomers118203952
Maprs118203952
PheGenIrs118203952
hapmaprs118203952
1000 genomesrs118203952
hgdprs118203952
ensemblrs118203952
gopubmedrs118203952
geneviewrs118203952
scholarrs118203952
googlers118203952
pharmgkbrs118203952
gwascentralrs118203952
openSNPrs118203952
23andMers118203952
23andMe allrs118203952
SNP Nexus

SNPshotrs118203952
SNPdbers118203952
MSV3drs118203952
GWAS Ctlgrs118203952
Max Magnitude0
OMIM611632
Desc
Variant0008
Relatedalso
ClinVar
Risk rs118203952(A;A)
Alt rs118203952(A;A)
Reference rs118203952(G;G)
Significance Pathogenic
Disease Schnyder crystalline corneal dystrophy
Variation info
Gene UBIAD1
CLNDBN Schnyder crystalline corneal dystrophy
Reversed 0
HGVS NC_000001.10:g.11345727G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000911.2,