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rs199422185

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422185(C;T)
Make rs199422185(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197093156
GeneASPM
is asnp
is mentioned by
dbSNPrs199422185
ebirs199422185
HLIrs199422185
Exacrs199422185
Varsomers199422185
Maprs199422185
PheGenIrs199422185
hapmaprs199422185
1000 genomesrs199422185
hgdprs199422185
ensemblrs199422185
gopubmedrs199422185
geneviewrs199422185
scholarrs199422185
googlers199422185
pharmgkbrs199422185
gwascentralrs199422185
openSNPrs199422185
23andMers199422185
23andMe allrs199422185
SNP Nexus

SNPshotrs199422185
SNPdbers199422185
MSV3drs199422185
GWAS Ctlgrs199422185
Max Magnitude0
ClinVar
Risk rs199422185(T;T)
Alt rs199422185(T;T)
Reference rs199422185(C;C)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5 not provided
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5 not provided
Reversed 1
HGVS NC_000001.10:g.197062286G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020811.1, RCV000219573.1,