rs1057518974

Orientation

plus

Stabilized

plus

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

Make rs1057518974(A;A)

Make rs1057518974(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

31334837

Gene

NF1

is a	snp
is	mentioned by
dbSNP	rs1057518974
dbSNP (classic)	rs1057518974
ClinGen	rs1057518974
ebi	rs1057518974
HLI	rs1057518974
Exac	rs1057518974
Gnomad	rs1057518974
Varsome	rs1057518974
LitVar	rs1057518974
Map	rs1057518974
PheGenI	rs1057518974
Biobank	rs1057518974
1000 genomes	rs1057518974
hgdp	rs1057518974
ensembl	rs1057518974
geneview	rs1057518974
scholar	rs1057518974
google	rs1057518974
pharmgkb	rs1057518974
gwascentral	rs1057518974
openSNP	rs1057518974
23andMe	rs1057518974
SNPshot	rs1057518974
SNPdbe	rs1057518974
MSV3d	rs1057518974
GWAS Ctlg	rs1057518974

Max Magnitude

0

ClinVar
Risk	rs1057518974(A;A)
Alt	rs1057518974(A;A)
Reference	Rs1057518974(G;G)
Significance	Probable-Pathogenic
Disease	Axillary freckling Cafe-au-lait spot Plexiform neurofibroma
Variation	info
Gene	NF1
CLNDBN	Axillary freckling Cafe-au-lait spot Plexiform neurofibroma
Reversed	0
HGVS	NC_000017.10:g.29661855G>A
CLNSRC
CLNACC	RCV000415207.1,