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rs786205645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs786205645(-;-)
Make rs786205645(-;AT)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position169508827
GeneNEK1
is asnp
is mentioned by
dbSNPrs786205645
dbSNP (classic)rs786205645
ClinGenrs786205645
ebirs786205645
HLIrs786205645
Exacrs786205645
Gnomadrs786205645
Varsomers786205645
LitVarrs786205645
Maprs786205645
PheGenIrs786205645
Biobankrs786205645
1000 genomesrs786205645
hgdprs786205645
ensemblrs786205645
geneviewrs786205645
scholarrs786205645
googlers786205645
pharmgkbrs786205645
gwascentralrs786205645
openSNPrs786205645
23andMers786205645
SNPshotrs786205645
SNPdbers786205645
MSV3drs786205645
GWAS Ctlgrs786205645
Max Magnitude0
ClinVar
Risk rs786205645(-;-)
Alt rs786205645(-;-)
Reference Rs786205645(AT;AT)
Significance Pathogenic
Disease not provided Short-rib thoracic dysplasia 3 with or without polydactyly
Variation info
Gene NEK1
CLNDBN not provided Short-rib thoracic dysplasia 3 with or without polydactyly
Reversed 1
HGVS NC_000004.11:g.170429978_170429979delAT
CLNSRC
CLNACC RCV000171517.1, RCV000256463.1,