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rs75225191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs75225191(C;T)
Make rs75225191(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position43114541
GeneRET
is asnp
is mentioned by
dbSNPrs75225191
ebirs75225191
HLIrs75225191
Exacrs75225191
Varsomers75225191
Maprs75225191
PheGenIrs75225191
hapmaprs75225191
1000 genomesrs75225191
hgdprs75225191
ensemblrs75225191
gopubmedrs75225191
geneviewrs75225191
scholarrs75225191
googlers75225191
pharmgkbrs75225191
gwascentralrs75225191
openSNPrs75225191
23andMers75225191
23andMe allrs75225191
SNP Nexus

SNPshotrs75225191
SNPdbers75225191
MSV3drs75225191
GWAS Ctlgrs75225191
Max Magnitude0
OMIM164761
Desc
Variant0037
Relatedalso
ClinVar
Risk rs75225191(T;T)
Alt rs75225191(T;T)
Reference rs75225191(C;C)
Significance Other
Disease Hirschsprung disease 1 Multiple endocrine neoplasia Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene RET
CLNDBN Hirschsprung disease 1 Multiple endocrine neoplasia, type 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000010.10:g.43609989C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014966.2, RCV000204407.1, RCV000220871.1,


[PMID 8084609] DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.