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rs397514753

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514753(A;A)
Make rs397514753(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position75542602
GeneTMEM231
is asnp
is mentioned by
dbSNPrs397514753
ebirs397514753
HLIrs397514753
Exacrs397514753
Varsomers397514753
Maprs397514753
PheGenIrs397514753
hapmaprs397514753
1000 genomesrs397514753
hgdprs397514753
ensemblrs397514753
gopubmedrs397514753
geneviewrs397514753
scholarrs397514753
googlers397514753
pharmgkbrs397514753
gwascentralrs397514753
openSNPrs397514753
23andMers397514753
23andMe allrs397514753
SNP Nexus

SNPshotrs397514753
SNPdbers397514753
MSV3drs397514753
GWAS Ctlgrs397514753
Max Magnitude0
ClinVar
Risk rs397514753(A;A)
Alt rs397514753(A;A)
Reference rs397514753(G;G)
Significance Pathogenic
Disease Meckel syndrome Meckel-Gruber syndrome
Variation info
Gene TMEM231
CLNDBN Meckel syndrome, type 11 Meckel-Gruber syndrome
Reversed 1
HGVS NC_000016.9:g.75576500C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054806.2, RCV000162154.1,