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rs397514754

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514754(A;C)
Make rs397514754(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position75540130
GeneTMEM231
is asnp
is mentioned by
dbSNPrs397514754
ebirs397514754
HLIrs397514754
Exacrs397514754
Varsomers397514754
Maprs397514754
PheGenIrs397514754
hapmaprs397514754
1000 genomesrs397514754
hgdprs397514754
ensemblrs397514754
gopubmedrs397514754
geneviewrs397514754
scholarrs397514754
googlers397514754
pharmgkbrs397514754
gwascentralrs397514754
openSNPrs397514754
23andMers397514754
23andMe allrs397514754
SNP Nexus

SNPshotrs397514754
SNPdbers397514754
MSV3drs397514754
GWAS Ctlgrs397514754
Max Magnitude0
ClinVar
Risk rs397514754(C;C)
Alt rs397514754(C;C)
Reference rs397514754(A;A)
Significance Pathogenic
Disease Meckel syndrome
Variation info
Gene TMEM231
CLNDBN Meckel syndrome, type 11
Reversed 1
HGVS NC_000016.9:g.75574028T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000054807.4,