rs869312720

Orientation

minus

Stabilized

minus

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

Make rs869312720(-;-)

Make rs869312720(-;GTC)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

6115895

Gene

FERMT1

is a	snp
is	mentioned by
dbSNP	rs869312720
dbSNP (classic)	rs869312720
ClinGen	rs869312720
ebi	rs869312720
HLI	rs869312720
Exac	rs869312720
Gnomad	rs869312720
Varsome	rs869312720
LitVar	rs869312720
Map	rs869312720
PheGenI	rs869312720
Biobank	rs869312720
1000 genomes	rs869312720
hgdp	rs869312720
ensembl	rs869312720
geneview	rs869312720
scholar	rs869312720
google	rs869312720
pharmgkb	rs869312720
gwascentral	rs869312720
openSNP	rs869312720
23andMe	rs869312720
SNPshot	rs869312720
SNPdbe	rs869312720
MSV3d	rs869312720
GWAS Ctlg	rs869312720

Max Magnitude

0

ClinVar
Risk	rs869312720(-;-)
Alt	rs869312720(-;-)
Reference	Rs869312720(GTC;GTC)
Significance	Pathogenic
Disease	Kindler's syndrome
Variation	info
Gene	FERMT1
CLNDBN	Kindler's syndrome
Reversed	1
HGVS	NC_000020.10:g.6096542_6096544delGAC
CLNSRC
CLNACC	RCV000209900.1,