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rs199422155

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199422155(G;G)
Make rs199422155(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197124312
GeneASPM
is asnp
is mentioned by
dbSNPrs199422155
ebirs199422155
HLIrs199422155
Exacrs199422155
Varsomers199422155
Maprs199422155
PheGenIrs199422155
hapmaprs199422155
1000 genomesrs199422155
hgdprs199422155
ensemblrs199422155
gopubmedrs199422155
geneviewrs199422155
scholarrs199422155
googlers199422155
pharmgkbrs199422155
gwascentralrs199422155
openSNPrs199422155
23andMers199422155
23andMe allrs199422155
SNP Nexus

SNPshotrs199422155
SNPdbers199422155
MSV3drs199422155
GWAS Ctlgrs199422155
Max Magnitude0
ClinVar
Risk rs199422155(G;G)
Alt rs199422155(G;G)
Reference rs199422155(T;T)
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.197093442A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020764.1,