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rs786201012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;GA) 3 Carrier of a Meckel syndrome mutation (type 12)
(GA;GA) 0 common in clinvar


Make rs786201012(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position200603951
GeneKIF14
is asnp
is mentioned by
dbSNPrs786201012
dbSNP (classic)rs786201012
ClinGenrs786201012
ebirs786201012
HLIrs786201012
Exacrs786201012
Gnomadrs786201012
Varsomers786201012
LitVarrs786201012
Maprs786201012
PheGenIrs786201012
Biobankrs786201012
1000 genomesrs786201012
hgdprs786201012
ensemblrs786201012
geneviewrs786201012
scholarrs786201012
googlers786201012
pharmgkbrs786201012
gwascentralrs786201012
openSNPrs786201012
23andMers786201012
SNPshotrs786201012
SNPdbers786201012
MSV3drs786201012
GWAS Ctlgrs786201012
Max Magnitude3
ClinVar
Risk rs786201012(-;-)
Alt rs786201012(-;-)
Reference Rs786201012(GA;GA)
Significance Pathogenic
Disease Meckel syndrome 12
Variation info
Gene KIF14
CLNDBN Meckel syndrome 12
Reversed 1
HGVS NC_000001.10:g.200573079_200573080delTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000162210.3,