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

rs104893961

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893961(A;C)
Make rs104893961(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position121446897
GeneGJA1
is asnp
is mentioned by
dbSNPrs104893961
dbSNP (classic)rs104893961
ClinGenrs104893961
ebirs104893961
HLIrs104893961
Exacrs104893961
Gnomadrs104893961
Varsomers104893961
LitVarrs104893961
Maprs104893961
PheGenIrs104893961
Biobankrs104893961
1000 genomesrs104893961
hgdprs104893961
ensemblrs104893961
geneviewrs104893961
scholarrs104893961
googlers104893961
pharmgkbrs104893961
gwascentralrs104893961
openSNPrs104893961
23andMers104893961
SNPshotrs104893961
SNPdbers104893961
MSV3drs104893961
GWAS Ctlgrs104893961
Max Magnitude0
OMIM121014
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893961(C;C)
Alt rs104893961(C;C)
Reference Rs104893961(A;A)
Significance Pathogenic
Disease Oculodentodigital dysplasia
Variation info
Gene GJA1
CLNDBN Oculodentodigital dysplasia
Reversed 0
HGVS NC_000006.11:g.121768043A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018503.27,