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rs797045423

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs797045423(GA;TGGAGGAACAGT)
Make rs797045423(TGGAGGAACAGT;TGGAGGAACAGT)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position29702912
GeneC19orf12
is asnp
is mentioned by
dbSNPrs797045423
ClinGenrs797045423
ebirs797045423
HLIrs797045423
Exacrs797045423
Varsomers797045423
Maprs797045423
PheGenIrs797045423
hapmaprs797045423
1000 genomesrs797045423
hgdprs797045423
ensemblrs797045423
gopubmedrs797045423
geneviewrs797045423
scholarrs797045423
googlers797045423
pharmgkbrs797045423
gwascentralrs797045423
openSNPrs797045423
23andMers797045423
23andMe allrs797045423
SNP Nexus

SNPshotrs797045423
SNPdbers797045423
MSV3drs797045423
GWAS Ctlgrs797045423
Max Magnitude0
ClinVar
Risk rs797045423(TGGAGGAACAGT;TGGAGGAACAGT)
Alt rs797045423(TGGAGGAACAGT;TGGAGGAACAGT)
Reference Rs797045423(GA;GA)
Significance Pathogenic
Disease Neurodegeneration with brain iron accumulation 4
Variation info
Gene C19orf12
CLNDBN Neurodegeneration with brain iron accumulation 4
Reversed 1
HGVS NC_000019.9:g.30193819_30193820delTCinsACTGTTCCTCCA
CLNSRC
CLNACC RCV000194885.1,