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rs587784573

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784573(C;C)
Make rs587784573(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position14619304
GeneC12orf60, GUCY2C, PLBD1-AS1
is asnp
is mentioned by
dbSNPrs587784573
dbSNP (classic)rs587784573
ClinGenrs587784573
ebirs587784573
HLIrs587784573
Exacrs587784573
Gnomadrs587784573
Varsomers587784573
LitVarrs587784573
Maprs587784573
PheGenIrs587784573
Biobankrs587784573
1000 genomesrs587784573
hgdprs587784573
ensemblrs587784573
geneviewrs587784573
scholarrs587784573
googlers587784573
pharmgkbrs587784573
gwascentralrs587784573
openSNPrs587784573
23andMers587784573
SNPshotrs587784573
SNPdbers587784573
MSV3drs587784573
GWAS Ctlgrs587784573
Max Magnitude0
ClinVar
Risk rs587784573(C;C)
Alt rs587784573(C;C)
Reference Rs587784573(T;T)
Significance Pathogenic
Disease Meconium ileus
Variation info
Gene PLBD1-AS1 LOC101928290 GUCY2C
CLNDBN Meconium ileus
Reversed 1
HGVS NC_000012.11:g.14772238A>G
CLNSRC GUCY2C database
CLNACC RCV000148340.1,