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rs786205125

From SNPedia

Orientationminus
Geno Mag Summary
(GGCGGGGC;GGCGGGGC) 0 common in clinvar
Make rs786205125(-;-)
Make rs786205125(-;GGCGGGGC)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position4802483
is asnp
is mentioned by
dbSNPrs786205125
ebirs786205125
HLIrs786205125
Exacrs786205125
Varsomers786205125
Maprs786205125
PheGenIrs786205125
hapmaprs786205125
1000 genomesrs786205125
hgdprs786205125
ensemblrs786205125
gopubmedrs786205125
geneviewrs786205125
scholarrs786205125
googlers786205125
pharmgkbrs786205125
gwascentralrs786205125
openSNPrs786205125
23andMers786205125
23andMe allrs786205125
SNP Nexus

SNPshotrs786205125
SNPdbers786205125
MSV3drs786205125
GWAS Ctlgrs786205125
Max Magnitude0
ClinVar
Risk rs786205125(;)
Alt rs786205125(;)
Reference rs786205125(GGCGGGGC;GGCGGGGC)
Significance Pathogenic
Disease Kohlschutter's syndrome
Variation info
Gene
CLNDBN Kohlschutter's syndrome
Reversed 1
HGVS NC_000016.9:g.4852484_4852491delGCCCCGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000034352.4,