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rs387907145

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907145(C;T)
Make rs387907145(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position4800548
GeneROGDI
is asnp
is mentioned by
dbSNPrs387907145
ebirs387907145
HLIrs387907145
Exacrs387907145
Varsomers387907145
Maprs387907145
PheGenIrs387907145
hapmaprs387907145
1000 genomesrs387907145
hgdprs387907145
ensemblrs387907145
gopubmedrs387907145
geneviewrs387907145
scholarrs387907145
googlers387907145
pharmgkbrs387907145
gwascentralrs387907145
openSNPrs387907145
23andMers387907145
23andMe allrs387907145
SNP Nexus

SNPshotrs387907145
SNPdbers387907145
MSV3drs387907145
GWAS Ctlgrs387907145
Max Magnitude0
ClinVar
Risk rs387907145(T;T)
Alt rs387907145(T;T)
Reference rs387907145(C;C)
Significance Pathogenic
Disease Kohlschutter's syndrome
Variation info
Gene ROGDI
CLNDBN Kohlschutter's syndrome
Reversed 1
HGVS NC_000016.9:g.4850549G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024225.3,