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rs137853106

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853106(A;C)
Make rs137853106(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position93782456
GeneTMEM67
is asnp
is mentioned by
dbSNPrs137853106
ebirs137853106
HLIrs137853106
Exacrs137853106
Varsomers137853106
Maprs137853106
PheGenIrs137853106
hapmaprs137853106
1000 genomesrs137853106
hgdprs137853106
ensemblrs137853106
gopubmedrs137853106
geneviewrs137853106
scholarrs137853106
googlers137853106
pharmgkbrs137853106
gwascentralrs137853106
openSNPrs137853106
23andMers137853106
23andMe allrs137853106
SNP Nexus

SNPshotrs137853106
SNPdbers137853106
MSV3drs137853106
GWAS Ctlgrs137853106
Max Magnitude0
OMIM609884
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853106(C;C)
Alt rs137853106(C;C)
Reference rs137853106(A;A)
Significance Pathogenic
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94794684A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001434.4,