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rs76397662

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs76397662(A;A)
Make rs76397662(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43102345
GeneRET
is asnp
is mentioned by
dbSNPrs76397662
dbSNP (classic)rs76397662
ClinGenrs76397662
ebirs76397662
HLIrs76397662
Exacrs76397662
Gnomadrs76397662
Varsomers76397662
LitVarrs76397662
Maprs76397662
PheGenIrs76397662
Biobankrs76397662
1000 genomesrs76397662
hgdprs76397662
ensemblrs76397662
geneviewrs76397662
scholarrs76397662
googlers76397662
pharmgkbrs76397662
gwascentralrs76397662
openSNPrs76397662
23andMers76397662
SNPshotrs76397662
SNPdbers76397662
MSV3drs76397662
GWAS Ctlgrs76397662
GMAF0.001837
Max Magnitude0
OMIM164761
Desc
Variant0045
Relatedalso
ClinVar
Risk rs76397662(A;A)
Alt rs76397662(A;A)
Reference Rs76397662(G;G)
Significance Pathogenic
Disease Congenital central hypoventilation not specified Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Hirschsprung disease 1
Variation info
Gene RET
CLNDBN Congenital central hypoventilation not specified Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hirschsprung disease 1
Reversed 0
HGVS NC_000010.10:g.43597793G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014974.26, RCV000121988.2, RCV000163885.2, RCV000198261.2, RCV000490359.1,