rs267606799

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs267606799(G;T)

Make rs267606799(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48467975

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs267606799
dbSNP (classic)	rs267606799
ClinGen	rs267606799
ebi	rs267606799
HLI	rs267606799
Exac	rs267606799
Gnomad	rs267606799
Varsome	rs267606799
LitVar	rs267606799
Map	rs267606799
PheGenI	rs267606799
Biobank	rs267606799
1000 genomes	rs267606799
hgdp	rs267606799
ensembl	rs267606799
geneview	rs267606799
scholar	rs267606799
google	rs267606799
pharmgkb	rs267606799
gwascentral	rs267606799
openSNP	rs267606799
23andMe	rs267606799
SNPshot	rs267606799
SNPdbe	rs267606799
MSV3d	rs267606799
GWAS Ctlg	rs267606799

Max Magnitude

0

ClinVar
Risk	rs267606799(C;C) rs267606799(T;T)
Alt	rs267606799(C;C) rs267606799(T;T)
Reference	Rs267606799(G;G)
Significance	Pathogenic
Disease	Stiff skin syndrome
Variation	info
Gene	FBN1
CLNDBN	Stiff skin syndrome
Reversed	1
HGVS	NC_000015.9:g.48760172C>A; NC_000015.9:g.48760172C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017933.29, RCV000017934.29,