rs199474790

Orientation

plus

Stabilized

plus

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

Make rs199474790(A;C)

Make rs199474790(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

31258488

Gene

NF1

is a	snp
is	mentioned by
dbSNP	rs199474790
dbSNP (classic)	rs199474790
ClinGen	rs199474790
ebi	rs199474790
HLI	rs199474790
Exac	rs199474790
Gnomad	rs199474790
Varsome	rs199474790
LitVar	rs199474790
Map	rs199474790
PheGenI	rs199474790
Biobank	rs199474790
1000 genomes	rs199474790
hgdp	rs199474790
ensembl	rs199474790
geneview	rs199474790
scholar	rs199474790
google	rs199474790
pharmgkb	rs199474790
gwascentral	rs199474790
openSNP	rs199474790
23andMe	rs199474790
SNPshot	rs199474790
SNPdbe	rs199474790
MSV3d	rs199474790
GWAS Ctlg	rs199474790

Max Magnitude

5.5

ClinVar
Risk	rs199474790(C;C) rs199474790(G;G)
Alt	rs199474790(C;C) rs199474790(G;G)
Reference	Rs199474790(A;A)
Significance	Pathogenic
Disease	not provided Neurofibromatosis
Variation	info
Gene	NF1
CLNDBN	not provided Neurofibromatosis, type 1
Reversed	0
HGVS	NC_000017.10:g.29585506A>C; NC_000017.10:g.29585506A>G
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059195.1, RCV000228712.1,