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rs199422177

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs199422177(-;-)
Make rs199422177(-;AG)
Make rs199422177(AG;AG)
ReferenceGRCh38 38.1/141
Chromosome1
Position197101060
GeneASPM
is asnp
is mentioned by
dbSNPrs199422177
ebirs199422177
HLIrs199422177
Exacrs199422177
Varsomers199422177
Maprs199422177
PheGenIrs199422177
hapmaprs199422177
1000 genomesrs199422177
hgdprs199422177
ensemblrs199422177
gopubmedrs199422177
geneviewrs199422177
scholarrs199422177
googlers199422177
pharmgkbrs199422177
gwascentralrs199422177
openSNPrs199422177
23andMers199422177
23andMe allrs199422177
SNP Nexus

SNPshotrs199422177
SNPdbers199422177
MSV3drs199422177
GWAS Ctlgrs199422177
Max Magnitude0
ClinVar
Risk rs199422177(;)
Alt rs199422177(;)
Reference rs199422177(GA;GA)
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.197070190_197070191delCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020803.1,