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rs374434303

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374434303(C;T)
Make rs374434303(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position7561509
GenePNPLA6
is asnp
is mentioned by
dbSNPrs374434303
dbSNP (classic)rs374434303
ClinGenrs374434303
ebirs374434303
HLIrs374434303
Exacrs374434303
Gnomadrs374434303
Varsomers374434303
LitVarrs374434303
Maprs374434303
PheGenIrs374434303
Biobankrs374434303
1000 genomesrs374434303
hgdprs374434303
ensemblrs374434303
geneviewrs374434303
scholarrs374434303
googlers374434303
pharmgkbrs374434303
gwascentralrs374434303
openSNPrs374434303
23andMers374434303
23andMe allrs374434303
SNPshotrs374434303
SNPdbers374434303
MSV3drs374434303
GWAS Ctlgrs374434303
Max Magnitude0
ClinVar
Risk rs374434303(T;T)
Alt rs374434303(T;T)
Reference Rs374434303(C;C)
Significance Probable-Pathogenic
Disease Ataxia Dysarthria Hypogonadotrophic hypogonadism Cerebellar atrophy Gait ataxia
Variation info
Gene PNPLA6
CLNDBN Ataxia Dysarthria Hypogonadotrophic hypogonadism Cerebellar atrophy Gait ataxia
Reversed 0
HGVS NC_000019.9:g.7626395C>T
CLNSRC
CLNACC RCV000414761.1, RCV000415064.1,