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rs199422174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs199422174(-;-)
Make rs199422174(-;AG)
Make rs199422174(AG;AG)
ReferenceGRCh38 38.1/141
Chromosome1
Position197101391
GeneASPM
is asnp
is mentioned by
dbSNPrs199422174
ebirs199422174
HLIrs199422174
Exacrs199422174
Varsomers199422174
Maprs199422174
PheGenIrs199422174
hapmaprs199422174
1000 genomesrs199422174
hgdprs199422174
ensemblrs199422174
gopubmedrs199422174
geneviewrs199422174
scholarrs199422174
googlers199422174
pharmgkbrs199422174
gwascentralrs199422174
openSNPrs199422174
23andMers199422174
23andMe allrs199422174
SNP Nexus

SNPshotrs199422174
SNPdbers199422174
MSV3drs199422174
GWAS Ctlgrs199422174
Max Magnitude0
ClinVar
Risk rs199422174(;)
Alt rs199422174(;)
Reference rs199422174(GA;GA)
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.197070521_197070522delCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020798.1,