rs121918294

Orientation

minus

Stabilized

minus

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

Make rs121918294(C;T)

Make rs121918294(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

6097619

Gene

FERMT1

is a	snp
is	mentioned by
dbSNP	rs121918294
dbSNP (classic)	rs121918294
ClinGen	rs121918294
ebi	rs121918294
HLI	rs121918294
Exac	rs121918294
Gnomad	rs121918294
Varsome	rs121918294
LitVar	rs121918294
Map	rs121918294
PheGenI	rs121918294
Biobank	rs121918294
1000 genomes	rs121918294
hgdp	rs121918294
ensembl	rs121918294
geneview	rs121918294
scholar	rs121918294
google	rs121918294
pharmgkb	rs121918294
gwascentral	rs121918294
openSNP	rs121918294
23andMe	rs121918294
SNPshot	rs121918294
SNPdbe	rs121918294
MSV3d	rs121918294
GWAS Ctlg	rs121918294

Max Magnitude

0

OMIM	607900
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918294(T;T)
Alt	rs121918294(T;T)
Reference	Rs121918294(C;C)
Significance	Pathogenic
Disease	Kindler's syndrome
Variation	info
Gene	FERMT1
CLNDBN	Kindler's syndrome
Reversed	1
HGVS	NC_000020.10:g.6078266G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002837.4,