rs199474738

Orientation

plus

Stabilized

plus

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

Make rs199474738(A;A)

Reference

GRCh38 38.1/142

Chromosome

17

Position

31225134

Gene

NF1

is a	snp
is	mentioned by
dbSNP	rs199474738
dbSNP (classic)	rs199474738
ClinGen	rs199474738
ebi	rs199474738
HLI	rs199474738
Exac	rs199474738
Gnomad	rs199474738
Varsome	rs199474738
LitVar	rs199474738
Map	rs199474738
PheGenI	rs199474738
Biobank	rs199474738
1000 genomes	rs199474738
hgdp	rs199474738
ensembl	rs199474738
geneview	rs199474738
scholar	rs199474738
google	rs199474738
pharmgkb	rs199474738
gwascentral	rs199474738
openSNP	rs199474738
23andMe	rs199474738
SNPshot	rs199474738
SNPdbe	rs199474738
MSV3d	rs199474738
GWAS Ctlg	rs199474738

Max Magnitude

5.5

ClinVar
Risk	rs199474738(A;A)
Alt	rs199474738(A;A)
Reference	Rs199474738(G;G)
Significance	Pathogenic
Disease	not provided Hereditary cancer-predisposing syndrome Neurofibromatosis
Variation	info
Gene	NF1
CLNDBN	not provided Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1
Reversed	0
HGVS	NC_000017.10:g.29552152G>A
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059160.2, RCV000130191.3, RCV000206280.1,