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rs199422148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422148(C;T)
Make rs199422148(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197139803
GeneASPM
is asnp
is mentioned by
dbSNPrs199422148
ebirs199422148
HLIrs199422148
Exacrs199422148
Varsomers199422148
Maprs199422148
PheGenIrs199422148
hapmaprs199422148
1000 genomesrs199422148
hgdprs199422148
ensemblrs199422148
gopubmedrs199422148
geneviewrs199422148
scholarrs199422148
googlers199422148
pharmgkbrs199422148
gwascentralrs199422148
openSNPrs199422148
23andMers199422148
23andMe allrs199422148
SNP Nexus

SNPshotrs199422148
SNPdbers199422148
MSV3drs199422148
GWAS Ctlgrs199422148
Max Magnitude0
ClinVar
Risk rs199422148(T;T)
Alt rs199422148(T;T)
Reference rs199422148(C;C)
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.197108933G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020752.1,