rs1057517754

Orientation

minus

Stabilized

minus

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

Make rs1057517754(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92221937

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs1057517754
dbSNP (classic)	rs1057517754
ClinGen	rs1057517754
ebi	rs1057517754
HLI	rs1057517754
Exac	rs1057517754
Gnomad	rs1057517754
Varsome	rs1057517754
LitVar	rs1057517754
Map	rs1057517754
PheGenI	rs1057517754
Biobank	rs1057517754
1000 genomes	rs1057517754
hgdp	rs1057517754
ensembl	rs1057517754
geneview	rs1057517754
scholar	rs1057517754
google	rs1057517754
pharmgkb	rs1057517754
gwascentral	rs1057517754
openSNP	rs1057517754
23andMe	rs1057517754
SNPshot	rs1057517754
SNPdbe	rs1057517754
MSV3d	rs1057517754
GWAS Ctlg	rs1057517754

Max Magnitude

0

aka c.1524_1528delAAGAA (p.Arg510Cysfs)

ClinVar
Risk	rs1057517754(-;-)
Alt	rs1057517754(-;-)
Reference	Rs1057517754(AAGAA;AAGAA)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	KRIT1
CLNDBN	not provided
Reversed	1
HGVS	NC_000007.13:g.91851251_91851255delTTCTT
CLNSRC
CLNACC	RCV000413088.1,