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rs374349989

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs374349989(A;G)
Make rs374349989(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position123699702
GeneTCTN2
is asnp
is mentioned by
dbSNPrs374349989
ebirs374349989
HLIrs374349989
Exacrs374349989
Varsomers374349989
Maprs374349989
PheGenIrs374349989
hapmaprs374349989
1000 genomesrs374349989
hgdprs374349989
ensemblrs374349989
gopubmedrs374349989
geneviewrs374349989
scholarrs374349989
googlers374349989
pharmgkbrs374349989
gwascentralrs374349989
openSNPrs374349989
23andMers374349989
23andMe allrs374349989
SNP Nexus

SNPshotrs374349989
SNPdbers374349989
MSV3drs374349989
GWAS Ctlgrs374349989
Max Magnitude0
ClinVar
Risk rs374349989(G;G)
Alt rs374349989(G;G)
Reference rs374349989(A;A)
Significance Pathogenic
Disease Meckel syndrome type 8
Variation info
Gene TCTN2
CLNDBN Meckel syndrome type 8
Reversed 0
HGVS NC_000012.11:g.124184249A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024072.5,