rs397509432

Orientation

plus

Stabilized

plus

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

Make rs397509432(G;T)

Make rs397509432(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

45542278

Gene

FBLN1

is a	snp
is	mentioned by
dbSNP	rs397509432
dbSNP (classic)	rs397509432
ClinGen	rs397509432
ebi	rs397509432
HLI	rs397509432
Exac	rs397509432
Gnomad	rs397509432
Varsome	rs397509432
LitVar	rs397509432
Map	rs397509432
PheGenI	rs397509432
Biobank	rs397509432
1000 genomes	rs397509432
hgdp	rs397509432
ensembl	rs397509432
geneview	rs397509432
scholar	rs397509432
google	rs397509432
pharmgkb	rs397509432
gwascentral	rs397509432
openSNP	rs397509432
23andMe	rs397509432
SNPshot	rs397509432
SNPdbe	rs397509432
MSV3d	rs397509432
GWAS Ctlg	rs397509432

Max Magnitude

0

ClinVar
Risk	rs397509432(T;T)
Alt	rs397509432(T;T)
Reference	Rs397509432(G;G)
Significance	Pathogenic
Disease	Autosomal recessive syndrome of syndactyly not provided
Variation	info
Gene	FBLN1
CLNDBN	Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects not provided
Reversed	0
HGVS	NC_000022.10:g.45938158G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000054444.1, RCV000128616.2,