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rs1057521927

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057521927(A;A)
Make rs1057521927(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position151017860
GenePRUNE, PRUNE1
is asnp
is mentioned by
dbSNPrs1057521927
dbSNP (old)rs1057521927
ClinGenrs1057521927
ebirs1057521927
HLIrs1057521927
Exacrs1057521927
Gnomadrs1057521927
Varsomers1057521927
Maprs1057521927
PheGenIrs1057521927
Biobankrs1057521927
1000 genomesrs1057521927
hgdprs1057521927
ensemblrs1057521927
gopubmedrs1057521927
geneviewrs1057521927
scholarrs1057521927
googlers1057521927
pharmgkbrs1057521927
gwascentralrs1057521927
openSNPrs1057521927
23andMers1057521927
23andMe allrs1057521927
SNPshotrs1057521927
SNPdbers1057521927
MSV3drs1057521927
GWAS Ctlgrs1057521927
Max Magnitude0
ClinVar
Risk rs1057521927(A;A)
Alt rs1057521927(A;A)
Reference Rs1057521927(G;G)
Significance Pathogenic
Disease not provided Abnormality of brain morphology Neurodevelopmental disorder with microcephaly
Variation info
Gene PRUNE1 PRUNE
CLNDBN not provided Abnormality of brain morphology Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Reversed 0
HGVS NC_000001.10:g.150990336G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000425463.1, RCV000454192.1, RCV000490538.1,