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rs398122966

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122966(C;T)
Make rs398122966(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2496266
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs398122966
ebirs398122966
HLIrs398122966
Exacrs398122966
Varsomers398122966
Maprs398122966
PheGenIrs398122966
hapmaprs398122966
1000 genomesrs398122966
hgdprs398122966
ensemblrs398122966
gopubmedrs398122966
geneviewrs398122966
scholarrs398122966
googlers398122966
pharmgkbrs398122966
gwascentralrs398122966
openSNPrs398122966
23andMers398122966
23andMe allrs398122966
SNP Nexus

SNPshotrs398122966
SNPdbers398122966
MSV3drs398122966
GWAS Ctlgrs398122966
Max Magnitude0
ClinVar
Risk rs398122966(T;T)
Alt rs398122966(T;T)
Reference rs398122966(C;C)
Significance Pathogenic
Disease Digitorenocerebral syndrome
Variation info
Gene TBC1D24
CLNDBN Digitorenocerebral syndrome
Reversed 0
HGVS NC_000016.9:g.2546267C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000076914.6,