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rs199422184

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422184(-;-)
Make rs199422184(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position197093187
GeneASPM
is asnp
is mentioned by
dbSNPrs199422184
ebirs199422184
HLIrs199422184
Exacrs199422184
Varsomers199422184
Maprs199422184
PheGenIrs199422184
hapmaprs199422184
1000 genomesrs199422184
hgdprs199422184
ensemblrs199422184
gopubmedrs199422184
geneviewrs199422184
scholarrs199422184
googlers199422184
pharmgkbrs199422184
gwascentralrs199422184
openSNPrs199422184
23andMers199422184
23andMe allrs199422184
SNP Nexus

SNPshotrs199422184
SNPdbers199422184
MSV3drs199422184
GWAS Ctlgrs199422184
Max Magnitude0
ClinVar
Risk rs199422184(;)
Alt rs199422184(;)
Reference rs199422184(A;A)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5
Reversed 1
HGVS NC_000001.10:g.197062317delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000005247.3,