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rs375168720

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs375168720(C;C)
Make rs375168720(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position38253642
GeneDDHD2
is asnp
is mentioned by
dbSNPrs375168720
ebirs375168720
HLIrs375168720
Exacrs375168720
Varsomers375168720
Maprs375168720
PheGenIrs375168720
hapmaprs375168720
1000 genomesrs375168720
hgdprs375168720
ensemblrs375168720
gopubmedrs375168720
geneviewrs375168720
scholarrs375168720
googlers375168720
pharmgkbrs375168720
gwascentralrs375168720
openSNPrs375168720
23andMers375168720
23andMe allrs375168720
SNP Nexus

SNPshotrs375168720
SNPdbers375168720
MSV3drs375168720
GWAS Ctlgrs375168720
Max Magnitude0
ClinVar
Risk rs375168720(C;C)
Alt rs375168720(C;C)
Reference rs375168720(G;G)
Significance Pathogenic
Disease Spastic paraplegia 54
Variation info
Gene DDHD2
CLNDBN Spastic paraplegia 54, autosomal recessive
Reversed 0
HGVS NC_000008.10:g.38111160G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032883.3,