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rs199422179

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199422179(-;-)
Make rs199422179(-;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197100873
GeneASPM
is asnp
is mentioned by
dbSNPrs199422179
ebirs199422179
HLIrs199422179
Exacrs199422179
Varsomers199422179
Maprs199422179
PheGenIrs199422179
hapmaprs199422179
1000 genomesrs199422179
hgdprs199422179
ensemblrs199422179
gopubmedrs199422179
geneviewrs199422179
scholarrs199422179
googlers199422179
pharmgkbrs199422179
gwascentralrs199422179
openSNPrs199422179
23andMers199422179
23andMe allrs199422179
SNP Nexus

SNPshotrs199422179
SNPdbers199422179
MSV3drs199422179
GWAS Ctlgrs199422179
Max Magnitude0
ClinVar
Risk rs199422179(;)
Alt rs199422179(;)
Reference rs199422179(T;T)
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.197070003delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020805.1,