rs199474778

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs199474778(C;C)

Make rs199474778(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

31227549

Gene

NF1

is a	snp
is	mentioned by
dbSNP	rs199474778
dbSNP (classic)	rs199474778
ClinGen	rs199474778
ebi	rs199474778
HLI	rs199474778
Exac	rs199474778
Gnomad	rs199474778
Varsome	rs199474778
LitVar	rs199474778
Map	rs199474778
PheGenI	rs199474778
Biobank	rs199474778
1000 genomes	rs199474778
hgdp	rs199474778
ensembl	rs199474778
geneview	rs199474778
scholar	rs199474778
google	rs199474778
pharmgkb	rs199474778
gwascentral	rs199474778
openSNP	rs199474778
23andMe	rs199474778
SNPshot	rs199474778
SNPdbe	rs199474778
MSV3d	rs199474778
GWAS Ctlg	rs199474778

Max Magnitude

0

ClinVar
Risk	rs199474778(A;A) rs199474778(C;C)
Alt	rs199474778(A;A) rs199474778(C;C)
Reference	Rs199474778(G;G)
Significance	Pathogenic
Disease	Neurofibromatosis not provided
Variation	info
Gene	NF1
CLNDBN	Neurofibromatosis, type 1 not provided
Reversed	0
HGVS	NC_000017.10:g.29554567G>A; NC_000017.10:g.29554567G>C
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000230729.1, RCV000059171.1,