rs869312718

Orientation

minus

Stabilized

minus

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

Make rs869312718(C;C)

Make rs869312718(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

6089031

Gene

FERMT1

is a	snp
is	mentioned by
dbSNP	rs869312718
dbSNP (classic)	rs869312718
ClinGen	rs869312718
ebi	rs869312718
HLI	rs869312718
Exac	rs869312718
Gnomad	rs869312718
Varsome	rs869312718
LitVar	rs869312718
Map	rs869312718
PheGenI	rs869312718
Biobank	rs869312718
1000 genomes	rs869312718
hgdp	rs869312718
ensembl	rs869312718
geneview	rs869312718
scholar	rs869312718
google	rs869312718
pharmgkb	rs869312718
gwascentral	rs869312718
openSNP	rs869312718
23andMe	rs869312718
SNPshot	rs869312718
SNPdbe	rs869312718
MSV3d	rs869312718
GWAS Ctlg	rs869312718

Max Magnitude

0

ClinVar
Risk	rs869312718(C;C)
Alt	rs869312718(C;C)
Reference	Rs869312718(T;T)
Significance	Pathogenic
Disease	Kindler's syndrome
Variation	info
Gene	FERMT1
CLNDBN	Kindler's syndrome
Reversed	1
HGVS	NC_000020.10:g.6069678A>G
CLNSRC
CLNACC	RCV000209936.1,