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rs786205124

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(I;I) 0 common genotype
Make rs786205124(-;-)
Make rs786205124(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position4798593
GeneROGDI
is asnp
is mentioned by
dbSNPrs786205124
dbSNP (classic)rs786205124
ClinGenrs786205124
ebirs786205124
HLIrs786205124
Exacrs786205124
Gnomadrs786205124
Varsomers786205124
LitVarrs786205124
Maprs786205124
PheGenIrs786205124
Biobankrs786205124
1000 genomesrs786205124
hgdprs786205124
ensemblrs786205124
geneviewrs786205124
scholarrs786205124
googlers786205124
pharmgkbrs786205124
gwascentralrs786205124
openSNPrs786205124
23andMers786205124
SNPshotrs786205124
SNPdbers786205124
MSV3drs786205124
GWAS Ctlgrs786205124
Max Magnitude0
ClinVar
Risk rs786205124(-;-)
Alt rs786205124(-;-)
Reference Rs786205124(C;C)
Significance Pathogenic
Disease Kohlschutter's syndrome
Variation info
Gene ROGDI
CLNDBN Kohlschutter's syndrome
Reversed 1
HGVS NC_000016.9:g.4848594delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000034351.5,