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rs119473030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119473030(C;C)
Make rs119473030(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position75278265
GeneSLC25A19
is asnp
is mentioned by
dbSNPrs119473030
ebirs119473030
HLIrs119473030
Exacrs119473030
Varsomers119473030
Maprs119473030
PheGenIrs119473030
hapmaprs119473030
1000 genomesrs119473030
hgdprs119473030
ensemblrs119473030
gopubmedrs119473030
geneviewrs119473030
scholarrs119473030
googlers119473030
pharmgkbrs119473030
gwascentralrs119473030
openSNPrs119473030
23andMers119473030
23andMe allrs119473030
SNP Nexus

SNPshotrs119473030
SNPdbers119473030
MSV3drs119473030
GWAS Ctlgrs119473030
Max Magnitude0
OMIM606521
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119473030(C;C)
Alt rs119473030(C;C)
Reference rs119473030(G;G)
Significance Pathogenic
Disease Amish lethal microcephaly
Variation info
Gene SLC25A19
CLNDBN Amish lethal microcephaly
Reversed 1
HGVS NC_000017.10:g.73274346C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004490.2,