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rs118203949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118203949(A;G)
Make rs118203949(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11285809
GeneUBIAD1
is asnp
is mentioned by
dbSNPrs118203949
ebirs118203949
HLIrs118203949
Exacrs118203949
Varsomers118203949
Maprs118203949
PheGenIrs118203949
hapmaprs118203949
1000 genomesrs118203949
hgdprs118203949
ensemblrs118203949
gopubmedrs118203949
geneviewrs118203949
scholarrs118203949
googlers118203949
pharmgkbrs118203949
gwascentralrs118203949
openSNPrs118203949
23andMers118203949
23andMe allrs118203949
SNP Nexus

SNPshotrs118203949
SNPdbers118203949
MSV3drs118203949
GWAS Ctlgrs118203949
Max Magnitude0
OMIM611632
Desc
Variant0005
Relatedalso
ClinVar
Risk rs118203949(G;G)
Alt rs118203949(G;G)
Reference rs118203949(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.11345866A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000908.2,