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rs751809418

From SNPedia

Orientationplus
Make rs751809418(-;-)
Make rs751809418(-;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position104776752
GeneHACE1
is asnp
is mentioned by
dbSNPrs751809418
ebirs751809418
HLIrs751809418
Exacrs751809418
Varsomers751809418
Maprs751809418
PheGenIrs751809418
hapmaprs751809418
1000 genomesrs751809418
hgdprs751809418
ensemblrs751809418
gopubmedrs751809418
geneviewrs751809418
scholarrs751809418
googlers751809418
pharmgkbrs751809418
gwascentralrs751809418
openSNPrs751809418
23andMers751809418
23andMe allrs751809418
SNP Nexus

SNPshotrs751809418
SNPdbers751809418
MSV3drs751809418
GWAS Ctlgrs751809418
Max Magnitude
ClinVar
Risk rs751809418(;)
Alt rs751809418(;)
Reference rs751809418(TG;TG)
Significance Pathogenic
Disease Spastic paraplegia and psychomotor retardation with or without seizures
Variation info
Gene HACE1
CLNDBN Spastic paraplegia and psychomotor retardation with or without seizures
Reversed 0
HGVS NC_000006.11:g.105224627_105224628delTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000207222.1,