rs137854562

Orientation

plus

Stabilized

plus

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

Make rs137854562(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

31235623

Gene

NF1

is a	snp
is	mentioned by
dbSNP	rs137854562
dbSNP (classic)	rs137854562
ClinGen	rs137854562
ebi	rs137854562
HLI	rs137854562
Exac	rs137854562
Gnomad	rs137854562
Varsome	rs137854562
LitVar	rs137854562
Map	rs137854562
PheGenI	rs137854562
Biobank	rs137854562
1000 genomes	rs137854562
hgdp	rs137854562
ensembl	rs137854562
geneview	rs137854562
scholar	rs137854562
google	rs137854562
pharmgkb	rs137854562
gwascentral	rs137854562
openSNP	rs137854562
23andMe	rs137854562
SNPshot	rs137854562
SNPdbe	rs137854562
MSV3d	rs137854562
GWAS Ctlg	rs137854562

Max Magnitude

5.5

OMIM	613113
Desc
Variant	0031
Related	also

ClinVar
Risk	rs137854562(T;T)
Alt	rs137854562(T;T)
Reference	Rs137854562(C;C)
Significance	Pathogenic
Disease	Neurofibromatosis Hereditary cancer-predisposing syndrome
Variation	info
Gene	NF1
CLNDBN	Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000017.10:g.29562641C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000390.6, RCV000129869.3,