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

rs199682210

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199682210(C;T)
Make rs199682210(T;T)
ReferenceGRCh38 38.1/142
Chromosome4
Position125487373
GeneFAT4
is asnp
is mentioned by
dbSNPrs199682210
dbSNP (classic)rs199682210
ClinGenrs199682210
ebirs199682210
HLIrs199682210
Exacrs199682210
Gnomadrs199682210
Varsomers199682210
LitVarrs199682210
Maprs199682210
PheGenIrs199682210
Biobankrs199682210
1000 genomesrs199682210
hgdprs199682210
ensemblrs199682210
geneviewrs199682210
scholarrs199682210
googlers199682210
pharmgkbrs199682210
gwascentralrs199682210
openSNPrs199682210
23andMers199682210
SNPshotrs199682210
SNPdbers199682210
MSV3drs199682210
GWAS Ctlgrs199682210
Max Magnitude0
ClinVar
Risk rs199682210(T;T)
Alt rs199682210(T;T)
Reference Rs199682210(C;C)
Significance Pathogenic
Disease Hennekam lymphangiectasia-lymphedema syndrome 2
Variation info
Gene FAT4
CLNDBN Hennekam lymphangiectasia-lymphedema syndrome 2
Reversed 0
HGVS NC_000004.11:g.126408528C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144160.4,