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rs201599657

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201599657(A;A)
Make rs201599657(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome8
Position6499860
GeneANGPT2, MCPH1
is asnp
is mentioned by
dbSNPrs201599657
dbSNP (classic)rs201599657
ClinGenrs201599657
ebirs201599657
HLIrs201599657
Exacrs201599657
Gnomadrs201599657
Varsomers201599657
LitVarrs201599657
Maprs201599657
PheGenIrs201599657
Biobankrs201599657
1000 genomesrs201599657
hgdprs201599657
ensemblrs201599657
geneviewrs201599657
scholarrs201599657
googlers201599657
pharmgkbrs201599657
gwascentralrs201599657
openSNPrs201599657
23andMers201599657
23andMe allrs201599657
SNPshotrs201599657
SNPdbers201599657
MSV3drs201599657
GWAS Ctlgrs201599657
Max Magnitude0
ClinVar
Risk rs201599657(A;A)
Alt rs201599657(A;A)
Reference Rs201599657(G;G)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 1 not provided
Variation info
Gene MCPH1 ANGPT2
CLNDBN Primary autosomal recessive microcephaly 1 not provided
Reversed 0
HGVS NC_000008.10:g.6357381G>A
CLNSRC
CLNACC RCV000351713.1, RCV000481434.1,