rs137854560

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5.5	Neurofibromatosis type 1

Make rs137854560(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

31249093

Gene

NF1

is a	snp
is	mentioned by
dbSNP	rs137854560
dbSNP (classic)	rs137854560
ClinGen	rs137854560
ebi	rs137854560
HLI	rs137854560
Exac	rs137854560
Gnomad	rs137854560
Varsome	rs137854560
LitVar	rs137854560
Map	rs137854560
PheGenI	rs137854560
Biobank	rs137854560
1000 genomes	rs137854560
hgdp	rs137854560
ensembl	rs137854560
geneview	rs137854560
scholar	rs137854560
google	rs137854560
pharmgkb	rs137854560
gwascentral	rs137854560
openSNP	rs137854560
23andMe	rs137854560
SNPshot	rs137854560
SNPdbe	rs137854560
MSV3d	rs137854560
GWAS Ctlg	rs137854560

Max Magnitude

5.5

OMIM	613113
Desc
Variant	0027
Related	also

ClinVar
Risk	rs137854560(T;T)
Alt	rs137854560(T;T)
Reference	Rs137854560(C;C)
Significance	Pathogenic
Disease	Neurofibromatosis not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	NF1
CLNDBN	Neurofibromatosis, type 1 not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000017.10:g.29576111C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000372.5, RCV000483061.1, RCV000492495.1,