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rs1060505028

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060505028(A;A)
Make rs1060505028(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position3229927
GeneHTT
is asnp
is mentioned by
dbSNPrs1060505028
dbSNP (old)rs1060505028
ClinGenrs1060505028
ebirs1060505028
HLIrs1060505028
Exacrs1060505028
Gnomadrs1060505028
Varsomers1060505028
LitVarrs1060505028
Maprs1060505028
PheGenIrs1060505028
Biobankrs1060505028
1000 genomesrs1060505028
hgdprs1060505028
ensemblrs1060505028
gopubmedrs1060505028
geneviewrs1060505028
scholarrs1060505028
googlers1060505028
pharmgkbrs1060505028
gwascentralrs1060505028
openSNPrs1060505028
23andMers1060505028
23andMe allrs1060505028
SNPshotrs1060505028
SNPdbers1060505028
MSV3drs1060505028
GWAS Ctlgrs1060505028
Max Magnitude0
ClinVar
Risk rs1060505028(A;A)
Alt rs1060505028(A;A)
Reference Rs1060505028(T;T)
Significance Pathogenic
Disease LOPES-MACIEL-RODAN SYNDROME
Variation info
Gene HTT
CLNDBN LOPES-MACIEL-RODAN SYNDROME
Reversed 0
HGVS NC_000004.11:g.3231654T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000477714.1,