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rs730882224

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs730882224(-;AACGGGTCGCCATCGAC)
Make rs730882224(AACGGGTCGCCATCGAC;AACGGGTCGCCATCGAC)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position49861819
GenePNKP
is asnp
is mentioned by
dbSNPrs730882224
ClinGenrs730882224
ebirs730882224
HLIrs730882224
Exacrs730882224
Varsomers730882224
Maprs730882224
PheGenIrs730882224
hapmaprs730882224
1000 genomesrs730882224
hgdprs730882224
ensemblrs730882224
gopubmedrs730882224
geneviewrs730882224
scholarrs730882224
googlers730882224
pharmgkbrs730882224
gwascentralrs730882224
openSNPrs730882224
23andMers730882224
23andMe allrs730882224
SNP Nexus

SNPshotrs730882224
SNPdbers730882224
MSV3drs730882224
GWAS Ctlgrs730882224
Max Magnitude0
ClinVar
Risk rs730882224(ACGGGTCGCCATCGACA;ACGGGTCGCCATCGACA)
Alt rs730882224(ACGGGTCGCCATCGACA;ACGGGTCGCCATCGACA)
Reference Rs730882224(-;-)
Significance Probable-Pathogenic
Disease Cerebellar atrophy Global developmental delay Primary microcephaly
Variation info
Gene PNKP
CLNDBN Cerebellar atrophy Global developmental delay Primary microcephaly
Reversed 1
HGVS NC_000019.9:g.50365076_50365077insGTCGATGGCGACCCGTT
CLNSRC
CLNACC RCV000162138.1,