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rs199422183

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs199422183(-;-)
Make rs199422183(-;CATT)
Make rs199422183(CATT;CATT)
ReferenceGRCh38 38.1/141
Chromosome1
Position197093227
GeneASPM
is asnp
is mentioned by
dbSNPrs199422183
ebirs199422183
HLIrs199422183
Exacrs199422183
Varsomers199422183
Maprs199422183
PheGenIrs199422183
hapmaprs199422183
1000 genomesrs199422183
hgdprs199422183
ensemblrs199422183
gopubmedrs199422183
geneviewrs199422183
scholarrs199422183
googlers199422183
pharmgkbrs199422183
gwascentralrs199422183
openSNPrs199422183
23andMers199422183
23andMe allrs199422183
SNP Nexus

SNPshotrs199422183
SNPdbers199422183
MSV3drs199422183
GWAS Ctlgrs199422183
Max Magnitude0
ClinVar
Risk rs199422183(CATT;CATT)
Alt rs199422183(CATT;CATT)
Reference rs199422183(;)
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.197062357_197062358insAATG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020810.1,