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rs199422140

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCAAGTC;TCAAGTC) 0 common in clinvar
Make rs199422140(-;-)
Make rs199422140(-;TCAAGTC)
ReferenceGRCh38 38.1/141
Chromosome1
Position197142986
GeneASPM
is asnp
is mentioned by
dbSNPrs199422140
ebirs199422140
HLIrs199422140
Exacrs199422140
Varsomers199422140
Maprs199422140
PheGenIrs199422140
hapmaprs199422140
1000 genomesrs199422140
hgdprs199422140
ensemblrs199422140
gopubmedrs199422140
geneviewrs199422140
scholarrs199422140
googlers199422140
pharmgkbrs199422140
gwascentralrs199422140
openSNPrs199422140
23andMers199422140
23andMe allrs199422140
SNP Nexus

SNPshotrs199422140
SNPdbers199422140
MSV3drs199422140
GWAS Ctlgrs199422140
Max Magnitude0
ClinVar
Risk rs199422140(;)
Alt rs199422140(;)
Reference rs199422140(TCAAGTC;TCAAGTC)
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.197112116_197112122delGACTTGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000020742.4,