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rs200092283

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200092283(G;T)
Make rs200092283(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position43403697
GeneTP53BP1, TUBGCP4
is asnp
is mentioned by
dbSNPrs200092283
ebirs200092283
HLIrs200092283
Exacrs200092283
Varsomers200092283
Maprs200092283
PheGenIrs200092283
hapmaprs200092283
1000 genomesrs200092283
hgdprs200092283
ensemblrs200092283
gopubmedrs200092283
geneviewrs200092283
scholarrs200092283
googlers200092283
pharmgkbrs200092283
gwascentralrs200092283
openSNPrs200092283
23andMers200092283
23andMe allrs200092283
SNP Nexus

SNPshotrs200092283
SNPdbers200092283
MSV3drs200092283
GWAS Ctlgrs200092283
Max Magnitude0
ClinVar
Risk rs200092283(T;T)
Alt rs200092283(T;T)
Reference rs200092283(G;G)
Significance Pathogenic
Disease Microcephaly and chorioretinopathy
Variation info
Gene TP53BP1 TUBGCP4
CLNDBN Microcephaly and chorioretinopathy, autosomal recessive, 3
Reversed 0
HGVS NC_000015.9:g.43695895G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170357.3,