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rs730882150

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882150(A;A)
Make rs730882150(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position69005119
GeneKIF1BP
is asnp
is mentioned by
dbSNPrs730882150
ebirs730882150
HLIrs730882150
Exacrs730882150
Varsomers730882150
Maprs730882150
PheGenIrs730882150
hapmaprs730882150
1000 genomesrs730882150
hgdprs730882150
ensemblrs730882150
gopubmedrs730882150
geneviewrs730882150
scholarrs730882150
googlers730882150
pharmgkbrs730882150
gwascentralrs730882150
openSNPrs730882150
23andMers730882150
23andMe allrs730882150
SNP Nexus

SNPshotrs730882150
SNPdbers730882150
MSV3drs730882150
GWAS Ctlgrs730882150
Max Magnitude0
ClinVar
Risk rs730882150(A;A)
Alt rs730882150(A;A)
Reference rs730882150(C;C)
Significance Pathogenic
Disease Shprintzen-Goldberg syndrome
Variation info
Gene KIAA1279
CLNDBN Shprintzen-Goldberg syndrome
Reversed 0
HGVS NC_000010.10:g.70764875C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000162029.3,