rs864622431

Orientation

plus

Stabilized

plus

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

Make rs864622431(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

31248982

Gene

NF1

is a	snp
is	mentioned by
dbSNP	rs864622431
dbSNP (classic)	rs864622431
ClinGen	rs864622431
ebi	rs864622431
HLI	rs864622431
Exac	rs864622431
Gnomad	rs864622431
Varsome	rs864622431
LitVar	rs864622431
Map	rs864622431
PheGenI	rs864622431
Biobank	rs864622431
1000 genomes	rs864622431
hgdp	rs864622431
ensembl	rs864622431
geneview	rs864622431
scholar	rs864622431
google	rs864622431
pharmgkb	rs864622431
gwascentral	rs864622431
openSNP	rs864622431
23andMe	rs864622431
SNPshot	rs864622431
SNPdbe	rs864622431
MSV3d	rs864622431
GWAS Ctlg	rs864622431

Max Magnitude

5.5

aka c.3975-2A>G

23andMe name: i723191

ClinVar
Risk	rs864622431(G;G)
Alt	rs864622431(G;G)
Reference	Rs864622431(A;A)
Significance	Pathogenic
Disease	Neurofibromatosis
Variation	info
Gene	NF1
CLNDBN	Neurofibromatosis, type 1
Reversed	0
HGVS	NC_000017.10:g.29576000A>G
CLNSRC
CLNACC	RCV000205081.1,