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rs730882246

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882246(C;T)
Make rs730882246(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position74494329
GeneISCA2, NPC2
is asnp
is mentioned by
dbSNPrs730882246
ebirs730882246
HLIrs730882246
Exacrs730882246
Varsomers730882246
Maprs730882246
PheGenIrs730882246
hapmaprs730882246
1000 genomesrs730882246
hgdprs730882246
ensemblrs730882246
gopubmedrs730882246
geneviewrs730882246
scholarrs730882246
googlers730882246
pharmgkbrs730882246
gwascentralrs730882246
openSNPrs730882246
23andMers730882246
23andMe allrs730882246
SNP Nexus

SNPshotrs730882246
SNPdbers730882246
MSV3drs730882246
GWAS Ctlgrs730882246
Max Magnitude0
ClinVar
Risk rs730882246(T;T)
Alt rs730882246(T;T)
Reference rs730882246(C;C)
Significance Probable-Pathogenic
Disease Death in infancy Failure to thrive Global developmental delay High CSF lactic acid Muscular hypotonia of the trunk Neurodegeration Optic atrophy Spastic tetraplegia
Variation info
Gene ISCA2 NPC2
CLNDBN Death in infancy Failure to thrive Global developmental delay High CSF lactic acid Muscular hypotonia of the trunk Neurodegeration Optic atrophy Spastic tetraplegia
Reversed 1
HGVS NC_000014.8:g.74961032G>A
CLNSRC
CLNACC RCV000162184.1,