rs121918292

Orientation

minus

Stabilized

minus

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

Make rs121918292(C;T)

Make rs121918292(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

6107594

Gene

FERMT1

is a	snp
is	mentioned by
dbSNP	rs121918292
dbSNP (classic)	rs121918292
ClinGen	rs121918292
ebi	rs121918292
HLI	rs121918292
Exac	rs121918292
Gnomad	rs121918292
Varsome	rs121918292
LitVar	rs121918292
Map	rs121918292
PheGenI	rs121918292
Biobank	rs121918292
1000 genomes	rs121918292
hgdp	rs121918292
ensembl	rs121918292
geneview	rs121918292
scholar	rs121918292
google	rs121918292
pharmgkb	rs121918292
gwascentral	rs121918292
openSNP	rs121918292
23andMe	rs121918292
SNPshot	rs121918292
SNPdbe	rs121918292
MSV3d	rs121918292
GWAS Ctlg	rs121918292

Max Magnitude

0

OMIM	607900
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918292(T;T)
Alt	rs121918292(T;T)
Reference	Rs121918292(C;C)
Significance	Pathogenic
Disease	Kindler's syndrome
Variation	info
Gene	FERMT1
CLNDBN	Kindler's syndrome
Reversed	1
HGVS	NC_000020.10:g.6088241G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002833.3,