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rs199422175

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422175(C;T)
Make rs199422175(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197101357
GeneASPM
is asnp
is mentioned by
dbSNPrs199422175
ebirs199422175
HLIrs199422175
Exacrs199422175
Varsomers199422175
Maprs199422175
PheGenIrs199422175
hapmaprs199422175
1000 genomesrs199422175
hgdprs199422175
ensemblrs199422175
gopubmedrs199422175
geneviewrs199422175
scholarrs199422175
googlers199422175
pharmgkbrs199422175
gwascentralrs199422175
openSNPrs199422175
23andMers199422175
23andMe allrs199422175
SNP Nexus

SNPshotrs199422175
SNPdbers199422175
MSV3drs199422175
GWAS Ctlgrs199422175
Max Magnitude0
ClinVar
Risk rs199422175(T;T)
Alt rs199422175(T;T)
Reference rs199422175(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.197070487G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020800.1,