rs199474747

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	5.5	Neurofibromatosis type 1
(G;T)	5.5	Neurofibromatosis type 1
(T;T)	0	common in clinvar

Make rs199474747(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

31229155

Gene

NF1

is a	snp
is	mentioned by
dbSNP	rs199474747
dbSNP (classic)	rs199474747
ClinGen	rs199474747
ebi	rs199474747
HLI	rs199474747
Exac	rs199474747
Gnomad	rs199474747
Varsome	rs199474747
LitVar	rs199474747
Map	rs199474747
PheGenI	rs199474747
Biobank	rs199474747
1000 genomes	rs199474747
hgdp	rs199474747
ensembl	rs199474747
geneview	rs199474747
scholar	rs199474747
google	rs199474747
pharmgkb	rs199474747
gwascentral	rs199474747
openSNP	rs199474747
23andMe	rs199474747
SNPshot	rs199474747
SNPdbe	rs199474747
MSV3d	rs199474747
GWAS Ctlg	rs199474747

Max Magnitude

5.5

aka c.2540T>C or p.Leu847Pro, and also c.2540T>G or p.Leu847Arg

see NF1

ClinVar
Risk	rs199474747(C;C)
Alt	rs199474747(C;C)
Reference	Rs199474747(T;T)
Significance	Pathogenic
Disease	not provided Neurofibromatosis Hereditary cancer-predisposing syndrome
Variation	info
Gene	NF1
CLNDBN	not provided Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000017.10:g.29556173T>C
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059175.1, RCV000205919.2, RCV000492608.1,