Have questions? Visit https://www.reddit.com/r/SNPedia

rs199422198

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199422198(A;A)
Make rs199422198(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197090236
GeneASPM
is asnp
is mentioned by
dbSNPrs199422198
ebirs199422198
HLIrs199422198
Exacrs199422198
Varsomers199422198
Maprs199422198
PheGenIrs199422198
hapmaprs199422198
1000 genomesrs199422198
hgdprs199422198
ensemblrs199422198
gopubmedrs199422198
geneviewrs199422198
scholarrs199422198
googlers199422198
pharmgkbrs199422198
gwascentralrs199422198
openSNPrs199422198
23andMers199422198
23andMe allrs199422198
SNP Nexus

SNPshotrs199422198
SNPdbers199422198
MSV3drs199422198
GWAS Ctlgrs199422198
Max Magnitude0
ClinVar
Risk rs199422198(A;A)
Alt rs199422198(A;A)
Reference rs199422198(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.197059366A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020829.1,