rs121918293

Orientation

minus

Stabilized

minus

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

Make rs121918293(C;T)

Make rs121918293(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

6107570

Gene

FERMT1

is a	snp
is	mentioned by
dbSNP	rs121918293
dbSNP (classic)	rs121918293
ClinGen	rs121918293
ebi	rs121918293
HLI	rs121918293
Exac	rs121918293
Gnomad	rs121918293
Varsome	rs121918293
LitVar	rs121918293
Map	rs121918293
PheGenI	rs121918293
Biobank	rs121918293
1000 genomes	rs121918293
hgdp	rs121918293
ensembl	rs121918293
geneview	rs121918293
scholar	rs121918293
google	rs121918293
pharmgkb	rs121918293
gwascentral	rs121918293
openSNP	rs121918293
23andMe	rs121918293
SNPshot	rs121918293
SNPdbe	rs121918293
MSV3d	rs121918293
GWAS Ctlg	rs121918293

Max Magnitude

0

OMIM	607900
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918293(T;T)
Alt	rs121918293(T;T)
Reference	Rs121918293(C;C)
Significance	Pathogenic
Disease	Kindler's syndrome
Variation	info
Gene	FERMT1
CLNDBN	Kindler's syndrome
Reversed	1
HGVS	NC_000020.10:g.6088217G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002836.4,