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rs1060505027

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060505027(A;A)
Make rs1060505027(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position3177388
GeneHTT
is asnp
is mentioned by
dbSNPrs1060505027
dbSNP (classic)rs1060505027
ClinGenrs1060505027
ebirs1060505027
HLIrs1060505027
Exacrs1060505027
Gnomadrs1060505027
Varsomers1060505027
LitVarrs1060505027
Maprs1060505027
PheGenIrs1060505027
Biobankrs1060505027
1000 genomesrs1060505027
hgdprs1060505027
ensemblrs1060505027
geneviewrs1060505027
scholarrs1060505027
googlers1060505027
pharmgkbrs1060505027
gwascentralrs1060505027
openSNPrs1060505027
23andMers1060505027
23andMe allrs1060505027
SNPshotrs1060505027
SNPdbers1060505027
MSV3drs1060505027
GWAS Ctlgrs1060505027
Max Magnitude0
ClinVar
Risk rs1060505027(A;A)
Alt rs1060505027(A;A)
Reference Rs1060505027(G;G)
Significance Pathogenic
Disease LOPES-MACIEL-RODAN SYNDROME not specified
Variation info
Gene HTT
CLNDBN LOPES-MACIEL-RODAN SYNDROME not specified
Reversed 0
HGVS NC_000004.11:g.3179115G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000477676.1, RCV000490292.1,