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rs1057518936

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518936(C;G)
Make rs1057518936(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position7541025
GenePNPLA6
is asnp
is mentioned by
dbSNPrs1057518936
dbSNP (old)rs1057518936
ClinGenrs1057518936
ebirs1057518936
HLIrs1057518936
Exacrs1057518936
Gnomadrs1057518936
Varsomers1057518936
Maprs1057518936
PheGenIrs1057518936
Biobankrs1057518936
1000 genomesrs1057518936
hgdprs1057518936
ensemblrs1057518936
gopubmedrs1057518936
geneviewrs1057518936
scholarrs1057518936
googlers1057518936
pharmgkbrs1057518936
gwascentralrs1057518936
openSNPrs1057518936
23andMers1057518936
23andMe allrs1057518936
SNPshotrs1057518936
SNPdbers1057518936
MSV3drs1057518936
GWAS Ctlgrs1057518936
Max Magnitude0
ClinVar
Risk rs1057518936(G;G)
Alt rs1057518936(G;G)
Reference Rs1057518936(C;C)
Significance Probable-Pathogenic
Disease Ataxia Dysarthria Hypogonadotrophic hypogonadism
Variation info
Gene PNPLA6
CLNDBN Ataxia Dysarthria Hypogonadotrophic hypogonadism
Reversed 0
HGVS NC_000019.9:g.7605911C>G
CLNSRC
CLNACC RCV000415321.1,