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rs121908445

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs121908445(C;C)
Make rs121908445(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position148147542
GeneCNTNAP2
is asnp
is mentioned by
dbSNPrs121908445
dbSNP (classic)rs121908445
ClinGenrs121908445
ebirs121908445
HLIrs121908445
Exacrs121908445
Gnomadrs121908445
Varsomers121908445
LitVarrs121908445
Maprs121908445
PheGenIrs121908445
Biobankrs121908445
1000 genomesrs121908445
hgdprs121908445
ensemblrs121908445
geneviewrs121908445
scholarrs121908445
googlers121908445
pharmgkbrs121908445
gwascentralrs121908445
openSNPrs121908445
23andMers121908445
SNPshotrs121908445
SNPdbers121908445
MSV3drs121908445
GWAS Ctlgrs121908445
Max Magnitude0
OMIM604569
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908445(C;C)
Alt rs121908445(C;C)
Reference Rs121908445(T;T)
Significance Other
Disease Autism 15 not specified Cortical dysplasia-focal epilepsy syndrome
Variation info
Gene CNTNAP2
CLNDBN Autism 15 not specified Cortical dysplasia-focal epilepsy syndrome
Reversed 0
HGVS NC_000007.13:g.147844634T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005828.4, RCV000187213.2, RCV000467303.1,