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rs199422176

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs199422176(-;-)
Make rs199422176(-;AA)
ReferenceGRCh38 38.1/141
Chromosome1
Position197101120
GeneASPM
is asnp
is mentioned by
dbSNPrs199422176
ebirs199422176
HLIrs199422176
Exacrs199422176
Varsomers199422176
Maprs199422176
PheGenIrs199422176
hapmaprs199422176
1000 genomesrs199422176
hgdprs199422176
ensemblrs199422176
gopubmedrs199422176
geneviewrs199422176
scholarrs199422176
googlers199422176
pharmgkbrs199422176
gwascentralrs199422176
openSNPrs199422176
23andMers199422176
23andMe allrs199422176
SNP Nexus

SNPshotrs199422176
SNPdbers199422176
MSV3drs199422176
GWAS Ctlgrs199422176
Max Magnitude0
ClinVar
Risk rs199422176(;)
Alt rs199422176(;)
Reference rs199422176(AA;AA)
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.197070250_197070251delTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020802.1,