Have questions? Visit https://www.reddit.com/r/SNPedia

rs111619594

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111619594(A;T)
Make rs111619594(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93780962
GeneTMEM67
is asnp
is mentioned by
dbSNPrs111619594
ebirs111619594
HLIrs111619594
Exacrs111619594
Varsomers111619594
Maprs111619594
PheGenIrs111619594
hapmaprs111619594
1000 genomesrs111619594
hgdprs111619594
ensemblrs111619594
gopubmedrs111619594
geneviewrs111619594
scholarrs111619594
googlers111619594
pharmgkbrs111619594
gwascentralrs111619594
openSNPrs111619594
23andMers111619594
23andMe allrs111619594
SNP Nexus

SNPshotrs111619594
SNPdbers111619594
MSV3drs111619594
GWAS Ctlgrs111619594
GMAF0.001377
Max Magnitude0
OMIM609884
Desc
Variant0012
Relatedalso
ClinVar
Risk rs111619594(T;T)
Alt rs111619594(T;T)
Reference rs111619594(A;A)
Significance Other
Disease Bardet-Biedl syndrome 14 Nephronophthisis
Variation info
Gene TMEM67
CLNDBN Bardet-Biedl syndrome 14, modifier of Nephronophthisis
Reversed 0
HGVS NC_000008.10:g.94793190A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001444.5, RCV000234830.1,