rs267606801

Orientation

minus

Stabilized

minus

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

Make rs267606801(G;G)

Make rs267606801(G;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48467956

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs267606801
dbSNP (classic)	rs267606801
ClinGen	rs267606801
ebi	rs267606801
HLI	rs267606801
Exac	rs267606801
Gnomad	rs267606801
Varsome	rs267606801
LitVar	rs267606801
Map	rs267606801
PheGenI	rs267606801
Biobank	rs267606801
1000 genomes	rs267606801
hgdp	rs267606801
ensembl	rs267606801
geneview	rs267606801
scholar	rs267606801
google	rs267606801
pharmgkb	rs267606801
gwascentral	rs267606801
openSNP	rs267606801
23andMe	rs267606801
SNPshot	rs267606801
SNPdbe	rs267606801
MSV3d	rs267606801
GWAS Ctlg	rs267606801

Max Magnitude

0

ClinVar
Risk	rs267606801(G;G)
Alt	rs267606801(G;G)
Reference	Rs267606801(T;T)
Significance	Pathogenic
Disease	Stiff skin syndrome
Variation	info
Gene	FBN1
CLNDBN	Stiff skin syndrome
Reversed	1
HGVS	NC_000015.9:g.48760153A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017936.28,