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rs398122837

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
(TA;TA) 0 common in clinvar
Make rs398122837(-;-)
Make rs398122837(-;AT)
ReferenceGRCh38 38.1/141
Chromosome8
Position38253646
GeneDDHD2
is asnp
is mentioned by
dbSNPrs398122837
ebirs398122837
HLIrs398122837
Exacrs398122837
Varsomers398122837
Maprs398122837
PheGenIrs398122837
hapmaprs398122837
1000 genomesrs398122837
hgdprs398122837
ensemblrs398122837
gopubmedrs398122837
geneviewrs398122837
scholarrs398122837
googlers398122837
pharmgkbrs398122837
gwascentralrs398122837
openSNPrs398122837
23andMers398122837
23andMe allrs398122837
SNP Nexus

SNPshotrs398122837
SNPdbers398122837
MSV3drs398122837
GWAS Ctlgrs398122837
Max Magnitude0
ClinVar
Risk rs398122837(;)
Alt rs398122837(;)
Reference rs398122837(TA;TA)
Significance Pathogenic
Disease Spastic paraplegia 54
Variation info
Gene DDHD2
CLNDBN Spastic paraplegia 54, autosomal recessive
Reversed 0
HGVS NC_000008.10:g.38111164_38111165delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000076918.4,