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rs730882151

From SNPedia

Orientationplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs730882151(-;-)
Make rs730882151(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position69005124
GeneKIF1BP
is asnp
is mentioned by
dbSNPrs730882151
ebirs730882151
HLIrs730882151
Exacrs730882151
Varsomers730882151
Maprs730882151
PheGenIrs730882151
hapmaprs730882151
1000 genomesrs730882151
hgdprs730882151
ensemblrs730882151
gopubmedrs730882151
geneviewrs730882151
scholarrs730882151
googlers730882151
pharmgkbrs730882151
gwascentralrs730882151
openSNPrs730882151
23andMers730882151
23andMe allrs730882151
SNP Nexus

SNPshotrs730882151
SNPdbers730882151
MSV3drs730882151
GWAS Ctlgrs730882151
Max Magnitude0
ClinVar
Risk rs730882151(;)
Alt rs730882151(;)
Reference rs730882151(AG;AG)
Significance Pathogenic
Disease Shprintzen-Goldberg syndrome
Variation info
Gene KIAA1279
CLNDBN Shprintzen-Goldberg syndrome
Reversed 0
HGVS NC_000010.10:g.70764880_70764881delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000162030.3,