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rs199422178

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199422178(A;A)
Make rs199422178(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197100978
GeneASPM
is asnp
is mentioned by
dbSNPrs199422178
ebirs199422178
HLIrs199422178
Exacrs199422178
Varsomers199422178
Maprs199422178
PheGenIrs199422178
hapmaprs199422178
1000 genomesrs199422178
hgdprs199422178
ensemblrs199422178
gopubmedrs199422178
geneviewrs199422178
scholarrs199422178
googlers199422178
pharmgkbrs199422178
gwascentralrs199422178
openSNPrs199422178
23andMers199422178
23andMe allrs199422178
SNP Nexus

SNPshotrs199422178
SNPdbers199422178
MSV3drs199422178
GWAS Ctlgrs199422178
Max Magnitude0
ClinVar
Risk rs199422178(A;A)
Alt rs199422178(A;A)
Reference rs199422178(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.197070108A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020804.1,