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rs75469429

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs75469429(C;T)
Make rs75469429(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position228157866
GeneGJC2
is asnp
is mentioned by
dbSNPrs75469429
ebirs75469429
HLIrs75469429
Exacrs75469429
Varsomers75469429
Maprs75469429
PheGenIrs75469429
hapmaprs75469429
1000 genomesrs75469429
hgdprs75469429
ensemblrs75469429
gopubmedrs75469429
geneviewrs75469429
scholarrs75469429
googlers75469429
pharmgkbrs75469429
gwascentralrs75469429
openSNPrs75469429
23andMers75469429
23andMe allrs75469429
SNP Nexus

SNPshotrs75469429
SNPdbers75469429
MSV3drs75469429
GWAS Ctlgrs75469429
GMAF0.007346
Max Magnitude0
ClinVar
Risk rs75469429(G,T;G,T)
Alt rs75469429(G,T;G,T)
Reference rs75469429(C;C)
Significance Pathogenic
Disease Spastic paraplegia 44 not provided Spastic paraplegia
Variation info
Gene GJC2
CLNDBN Spastic paraplegia 44, autosomal recessive not provided Spastic paraplegia
Reversed 0
HGVS NC_000001.10:g.228345567C>G; NC_000001.10:g.228345567C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002159.2, RCV000224514.1, RCV000232277.1,