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rs730880276

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880276(G;T)
Make rs730880276(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position147485934
GeneCNTNAP2
is asnp
is mentioned by
dbSNPrs730880276
ebirs730880276
HLIrs730880276
Exacrs730880276
Varsomers730880276
Maprs730880276
PheGenIrs730880276
hapmaprs730880276
1000 genomesrs730880276
hgdprs730880276
ensemblrs730880276
gopubmedrs730880276
geneviewrs730880276
scholarrs730880276
googlers730880276
pharmgkbrs730880276
gwascentralrs730880276
openSNPrs730880276
23andMers730880276
23andMe allrs730880276
SNP Nexus

SNPshotrs730880276
SNPdbers730880276
MSV3drs730880276
GWAS Ctlgrs730880276
Max Magnitude0
ClinVar
Risk rs730880276(T;T)
Alt rs730880276(T;T)
Reference rs730880276(G;G)
Significance Pathogenic
Disease Pitt-Hopkins-like syndrome 1 not provided
Variation info
Gene CNTNAP2
CLNDBN Pitt-Hopkins-like syndrome 1 not provided
Reversed 0
HGVS NC_000007.13:g.147183026G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005830.3, RCV000187170.1,