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rs786205119

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205119(A;T)
Make rs786205119(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position4798186
GeneROGDI
is asnp
is mentioned by
dbSNPrs786205119
ebirs786205119
HLIrs786205119
Exacrs786205119
Varsomers786205119
Maprs786205119
PheGenIrs786205119
hapmaprs786205119
1000 genomesrs786205119
hgdprs786205119
ensemblrs786205119
gopubmedrs786205119
geneviewrs786205119
scholarrs786205119
googlers786205119
pharmgkbrs786205119
gwascentralrs786205119
openSNPrs786205119
23andMers786205119
23andMe allrs786205119
SNP Nexus

SNPshotrs786205119
SNPdbers786205119
MSV3drs786205119
GWAS Ctlgrs786205119
Max Magnitude0
ClinVar
Risk rs786205119(T;T)
Alt rs786205119(T;T)
Reference rs786205119(A;A)
Significance Pathogenic
Disease Kohlschutter's syndrome
Variation info
Gene ROGDI
CLNDBN Kohlschutter's syndrome
Reversed 1
HGVS NC_000016.9:g.4848187T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024227.3,