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rs768047421

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs768047421(C;T)
Make rs768047421(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position3131647
GeneHTT
is asnp
is mentioned by
dbSNPrs768047421
dbSNP (classic)rs768047421
ClinGenrs768047421
ebirs768047421
HLIrs768047421
Exacrs768047421
Gnomadrs768047421
Varsomers768047421
LitVarrs768047421
Maprs768047421
PheGenIrs768047421
Biobankrs768047421
1000 genomesrs768047421
hgdprs768047421
ensemblrs768047421
geneviewrs768047421
scholarrs768047421
googlers768047421
pharmgkbrs768047421
gwascentralrs768047421
openSNPrs768047421
23andMers768047421
SNPshotrs768047421
SNPdbers768047421
MSV3drs768047421
GWAS Ctlgrs768047421
Max Magnitude0
ClinVar
Risk rs768047421(T;T)
Alt rs768047421(T;T)
Reference Rs768047421(C;C)
Significance Pathogenic
Disease LOPES-MACIEL-RODAN SYNDROME
Variation info
Gene HTT
CLNDBN LOPES-MACIEL-RODAN SYNDROME
Reversed 0
HGVS NC_000004.11:g.3133374C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000477706.1,