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rs864321621

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs864321621(A;C)
Make rs864321621(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position70127695
GeneRTTN
is asnp
is mentioned by
dbSNPrs864321621
ebirs864321621
HLIrs864321621
Exacrs864321621
Varsomers864321621
Maprs864321621
PheGenIrs864321621
hapmaprs864321621
1000 genomesrs864321621
hgdprs864321621
ensemblrs864321621
gopubmedrs864321621
geneviewrs864321621
scholarrs864321621
googlers864321621
pharmgkbrs864321621
gwascentralrs864321621
openSNPrs864321621
23andMers864321621
23andMe allrs864321621
SNP Nexus

SNPshotrs864321621
SNPdbers864321621
MSV3drs864321621
GWAS Ctlgrs864321621
Max Magnitude0
ClinVar
Risk rs864321621(C;C)
Alt rs864321621(C;C)
Reference rs864321621(A;A)
Significance Pathogenic
Disease Congenital microcephaly Microcephaly
Variation info
Gene RTTN
CLNDBN Congenital microcephaly Microcephaly, short stature, and polymicrogyria with or without seizures
Reversed 1
HGVS NC_000018.9:g.67794931T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000203567.1, RCV000210335.1,