rs1057518842

Orientation

plus

Stabilized

plus

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

Make rs1057518842(G;G)

Make rs1057518842(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

31227215

Gene

NF1

is a	snp
is	mentioned by
dbSNP	rs1057518842
dbSNP (classic)	rs1057518842
ClinGen	rs1057518842
ebi	rs1057518842
HLI	rs1057518842
Exac	rs1057518842
Gnomad	rs1057518842
Varsome	rs1057518842
LitVar	rs1057518842
Map	rs1057518842
PheGenI	rs1057518842
Biobank	rs1057518842
1000 genomes	rs1057518842
hgdp	rs1057518842
ensembl	rs1057518842
geneview	rs1057518842
scholar	rs1057518842
google	rs1057518842
pharmgkb	rs1057518842
gwascentral	rs1057518842
openSNP	rs1057518842
23andMe	rs1057518842
SNPshot	rs1057518842
SNPdbe	rs1057518842
MSV3d	rs1057518842
GWAS Ctlg	rs1057518842

Max Magnitude

0

ClinVar
Risk	rs1057518842(G;G)
Alt	rs1057518842(G;G)
Reference	Rs1057518842(T;T)
Significance	Probable-Pathogenic
Disease	Axillary freckling Cafe-au-lait spot Inguinal freckling Multiple cafe-au-lait spots Neurofibromas
Variation	info
Gene	NF1
CLNDBN	Axillary freckling Cafe-au-lait spot Inguinal freckling Multiple cafe-au-lait spots Neurofibromas
Reversed	0
HGVS	NC_000017.10:g.29554233T>G
CLNSRC
CLNACC	RCV000414786.1,