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rs199422135

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs199422135(-;-)
Make rs199422135(-;CT)
ReferenceGRCh38 38.1/141
Chromosome1
Position197143532
GeneASPM
is asnp
is mentioned by
dbSNPrs199422135
ebirs199422135
HLIrs199422135
Exacrs199422135
Varsomers199422135
Maprs199422135
PheGenIrs199422135
hapmaprs199422135
1000 genomesrs199422135
hgdprs199422135
ensemblrs199422135
gopubmedrs199422135
geneviewrs199422135
scholarrs199422135
googlers199422135
pharmgkbrs199422135
gwascentralrs199422135
openSNPrs199422135
23andMers199422135
23andMe allrs199422135
SNP Nexus

SNPshotrs199422135
SNPdbers199422135
MSV3drs199422135
GWAS Ctlgrs199422135
Max Magnitude0
ClinVar
Risk rs199422135(;)
Alt rs199422135(;)
Reference rs199422135(CT;CT)
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.197112662_197112663delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005244.3,