rs78727187

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common genotype

Make rs78727187(G;T)

Make rs78727187(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

5

Position

128332993

Gene

FBN2

is a	snp
is	mentioned by
dbSNP	rs78727187
dbSNP (classic)	rs78727187
ClinGen	rs78727187
ebi	rs78727187
HLI	rs78727187
Exac	rs78727187
Gnomad	rs78727187
Varsome	rs78727187
LitVar	rs78727187
Map	rs78727187
PheGenI	rs78727187
Biobank	rs78727187
1000 genomes	rs78727187
hgdp	rs78727187
ensembl	rs78727187
geneview	rs78727187
scholar	rs78727187
google	rs78727187
pharmgkb	rs78727187
gwascentral	rs78727187
openSNP	rs78727187
23andMe	rs78727187
SNPshot	rs78727187
SNPdbe	rs78727187
MSV3d	rs78727187
GWAS Ctlg	rs78727187

Max Magnitude

0

[PMID 28146470] 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,