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rs730880325

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs730880325(-;A)
Make rs730880325(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position14625894
GeneC12orf60, GUCY2C
is asnp
is mentioned by
dbSNPrs730880325
dbSNP (classic)rs730880325
ClinGenrs730880325
ebirs730880325
HLIrs730880325
Exacrs730880325
Gnomadrs730880325
Varsomers730880325
LitVarrs730880325
Maprs730880325
PheGenIrs730880325
Biobankrs730880325
1000 genomesrs730880325
hgdprs730880325
ensemblrs730880325
geneviewrs730880325
scholarrs730880325
googlers730880325
pharmgkbrs730880325
gwascentralrs730880325
openSNPrs730880325
23andMers730880325
SNPshotrs730880325
SNPdbers730880325
MSV3drs730880325
GWAS Ctlgrs730880325
Max Magnitude0
ClinVar
Risk rs730880325(A;A)
Alt rs730880325(A;A)
Reference Rs730880325(-;-)
Significance Pathogenic
Disease Meconium ileus
Variation info
Gene GUCY2C
CLNDBN Meconium ileus
Reversed 1
HGVS NC_000012.11:g.14778829dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000024309.2,