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rs148294838

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs148294838(G;T)
Make rs148294838(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197104115
GeneASPM
is asnp
is mentioned by
dbSNPrs148294838
ebirs148294838
HLIrs148294838
Exacrs148294838
Varsomers148294838
Maprs148294838
PheGenIrs148294838
hapmaprs148294838
1000 genomesrs148294838
hgdprs148294838
ensemblrs148294838
gopubmedrs148294838
geneviewrs148294838
scholarrs148294838
googlers148294838
pharmgkbrs148294838
gwascentralrs148294838
openSNPrs148294838
23andMers148294838
23andMe allrs148294838
SNP Nexus

SNPshotrs148294838
SNPdbers148294838
MSV3drs148294838
GWAS Ctlgrs148294838
Max Magnitude0
ClinVar
Risk rs148294838(T;T)
Alt rs148294838(T;T)
Reference rs148294838(G;G)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5
Reversed 0
HGVS NC_000001.10:g.197073245G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020780.1,