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

rs78727187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common genotype
Make rs78727187(G;T)
Make rs78727187(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position128332993
GeneFBN2
is asnp
is mentioned by
dbSNPrs78727187
dbSNP (classic)rs78727187
ClinGenrs78727187
ebirs78727187
HLIrs78727187
Exacrs78727187
Gnomadrs78727187
Varsomers78727187
LitVarrs78727187
Maprs78727187
PheGenIrs78727187
Biobankrs78727187
1000 genomesrs78727187
hgdprs78727187
ensemblrs78727187
geneviewrs78727187
scholarrs78727187
googlers78727187
pharmgkbrs78727187
gwascentralrs78727187
openSNPrs78727187
23andMers78727187
23andMe allrs78727187
SNPshotrs78727187
SNPdbers78727187
MSV3drs78727187
GWAS Ctlgrs78727187
Max Magnitude0

[PMID 28146470OA-icon.png] Rare and low-frequency coding variants alter human adult height.

ClinVar
Risk rs78727187(T;T)
Alt rs78727187(T;T)
Reference Rs78727187(G;G)
Significance Other
Disease not specified Thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly
Variation info
Gene FBN2
CLNDBN not specified Thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly
Reversed 0
HGVS NC_000005.9:g.127668685G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000195111.5, RCV000246303.1, RCV000331925.1,