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rs199422139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTCAAGT;CTCAAGT) 0 common in clinvar
(TCAAGTC;TCAAGTC) 0 common in clinvar
Make rs199422139(-;-)
Make rs199422139(-;TCTCAAG)
Make rs199422139(TCTCAAG;TCTCAAG)
ReferenceGRCh38 38.1/141
Chromosome1
Position197142988
GeneASPM
is asnp
is mentioned by
dbSNPrs199422139
ebirs199422139
HLIrs199422139
Exacrs199422139
Varsomers199422139
Maprs199422139
PheGenIrs199422139
hapmaprs199422139
1000 genomesrs199422139
hgdprs199422139
ensemblrs199422139
gopubmedrs199422139
geneviewrs199422139
scholarrs199422139
googlers199422139
pharmgkbrs199422139
gwascentralrs199422139
openSNPrs199422139
23andMers199422139
23andMe allrs199422139
SNP Nexus

SNPshotrs199422139
SNPdbers199422139
MSV3drs199422139
GWAS Ctlgrs199422139
Max Magnitude0
ClinVar
Risk rs199422139(;)
Alt rs199422139(;)
Reference rs199422139(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,