rs786202594

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(ACTC;ACTC)	0	common in clinvar
(CTCA;CTCA)	0	common in clinvar

Make rs786202594(-;-)

Make rs786202594(-;CTCA)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

31232842

Gene

NF1

is a	snp
is	mentioned by
dbSNP	rs786202594
dbSNP (classic)	rs786202594
ClinGen	rs786202594
ebi	rs786202594
HLI	rs786202594
Exac	rs786202594
Gnomad	rs786202594
Varsome	rs786202594
LitVar	rs786202594
Map	rs786202594
PheGenI	rs786202594
Biobank	rs786202594
1000 genomes	rs786202594
hgdp	rs786202594
ensembl	rs786202594
geneview	rs786202594
scholar	rs786202594
google	rs786202594
pharmgkb	rs786202594
gwascentral	rs786202594
openSNP	rs786202594
23andMe	rs786202594
SNPshot	rs786202594
SNPdbe	rs786202594
MSV3d	rs786202594
GWAS Ctlg	rs786202594

Merged from

Rs786204251

Max Magnitude

0

aka c.3457_3460delCTCA (p.Leu1153Metfs)

ClinVar
Risk	rs786202594(-;-) Rs786202594(ACTC;ACTC)
Alt	rs786202594(-;-) Rs786202594(ACTC;ACTC)
Reference	Rs786202594(CTCA;CTCA)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Neurofibromatosis
Variation	info
Gene	NF1
CLNDBN	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1
Reversed	0
HGVS	NC_000017.10:g.29559860_29559863delCTCA
CLNSRC
CLNACC	RCV000165479.1, RCV000168453.1,