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rs201362977

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201362977(C;T)
Make rs201362977(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position197089991
GeneASPM
is asnp
is mentioned by
dbSNPrs201362977
dbSNP (classic)rs201362977
ClinGenrs201362977
ebirs201362977
HLIrs201362977
Exacrs201362977
Gnomadrs201362977
Varsomers201362977
LitVarrs201362977
Maprs201362977
PheGenIrs201362977
Biobankrs201362977
1000 genomesrs201362977
hgdprs201362977
ensemblrs201362977
geneviewrs201362977
scholarrs201362977
googlers201362977
pharmgkbrs201362977
gwascentralrs201362977
openSNPrs201362977
23andMers201362977
23andMe allrs201362977
SNPshotrs201362977
SNPdbers201362977
MSV3drs201362977
GWAS Ctlgrs201362977
Max Magnitude0
ClinVar
Risk rs201362977(A;A) rs201362977(T;T)
Alt rs201362977(A;A) rs201362977(T;T)
Reference Rs201362977(C;C)
Significance Probable-Pathogenic
Disease Primary autosomal recessive microcephaly 5
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5
Reversed 0
HGVS NC_000001.10:g.197059121C>A; NC_000001.10:g.197059121C>T
CLNSRC
CLNACC RCV000416559.1, RCV000145243.1,