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rs373856119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs373856119(C;T)
Make rs373856119(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position38252216
GeneDDHD2
is asnp
is mentioned by
dbSNPrs373856119
ebirs373856119
HLIrs373856119
Exacrs373856119
Varsomers373856119
Maprs373856119
PheGenIrs373856119
hapmaprs373856119
1000 genomesrs373856119
hgdprs373856119
ensemblrs373856119
gopubmedrs373856119
geneviewrs373856119
scholarrs373856119
googlers373856119
pharmgkbrs373856119
gwascentralrs373856119
openSNPrs373856119
23andMers373856119
23andMe allrs373856119
SNP Nexus

SNPshotrs373856119
SNPdbers373856119
MSV3drs373856119
GWAS Ctlgrs373856119
Max Magnitude0
ClinVar
Risk rs373856119(T;T)
Alt rs373856119(T;T)
Reference rs373856119(C;C)
Significance Pathogenic
Disease Spastic paraplegia 54
Variation info
Gene DDHD2
CLNDBN Spastic paraplegia 54, autosomal recessive
Reversed 0
HGVS NC_000008.10:g.38109734C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032884.6,