rs869312719

Orientation

minus

Stabilized

minus

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

Make rs869312719(C;C)

Make rs869312719(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

6084083

Gene

FERMT1

is a	snp
is	mentioned by
dbSNP	rs869312719
dbSNP (classic)	rs869312719
ClinGen	rs869312719
ebi	rs869312719
HLI	rs869312719
Exac	rs869312719
Gnomad	rs869312719
Varsome	rs869312719
LitVar	rs869312719
Map	rs869312719
PheGenI	rs869312719
Biobank	rs869312719
1000 genomes	rs869312719
hgdp	rs869312719
ensembl	rs869312719
geneview	rs869312719
scholar	rs869312719
google	rs869312719
pharmgkb	rs869312719
gwascentral	rs869312719
openSNP	rs869312719
23andMe	rs869312719
SNPshot	rs869312719
SNPdbe	rs869312719
MSV3d	rs869312719
GWAS Ctlg	rs869312719

Max Magnitude

0

ClinVar
Risk	rs869312719(C;C)
Alt	rs869312719(C;C)
Reference	Rs869312719(T;T)
Significance	Pathogenic
Disease	Kindler's syndrome
Variation	info
Gene	FERMT1
CLNDBN	Kindler's syndrome
Reversed	1
HGVS	NC_000020.10:g.6064730A>G
CLNSRC
CLNACC	RCV000209848.1,