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rs199422171

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422171(-;-)
Make rs199422171(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position197102519
GeneASPM
is asnp
is mentioned by
dbSNPrs199422171
ebirs199422171
HLIrs199422171
Exacrs199422171
Varsomers199422171
Maprs199422171
PheGenIrs199422171
hapmaprs199422171
1000 genomesrs199422171
hgdprs199422171
ensemblrs199422171
gopubmedrs199422171
geneviewrs199422171
scholarrs199422171
googlers199422171
pharmgkbrs199422171
gwascentralrs199422171
openSNPrs199422171
23andMers199422171
23andMe allrs199422171
SNP Nexus

SNPshotrs199422171
SNPdbers199422171
MSV3drs199422171
GWAS Ctlgrs199422171
Max Magnitude0
ClinVar
Risk rs199422171(;)
Alt rs199422171(;)
Reference rs199422171(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.197071649delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020787.1,