rs137854557

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(G;G)	1	Miscall in Ancestry v2c data (most likely)

Make rs137854557(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

31214524

Gene

NF1

is a	snp
is	mentioned by
dbSNP	rs137854557
dbSNP (classic)	rs137854557
ClinGen	rs137854557
ebi	rs137854557
HLI	rs137854557
Exac	rs137854557
Gnomad	rs137854557
Varsome	rs137854557
LitVar	rs137854557
Map	rs137854557
PheGenI	rs137854557
Biobank	rs137854557
1000 genomes	rs137854557
hgdp	rs137854557
ensembl	rs137854557
geneview	rs137854557
scholar	rs137854557
google	rs137854557
pharmgkb	rs137854557
gwascentral	rs137854557
openSNP	rs137854557
23andMe	rs137854557
SNPshot	rs137854557
SNPdbe	rs137854557
MSV3d	rs137854557
GWAS Ctlg	rs137854557

Max Magnitude

1

OMIM	613113
Desc
Variant	0023
Related	also

ClinVar
Risk	Rs137854557(G;G)
Alt	Rs137854557(G;G)
Reference	Rs137854557(A;A)
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.29541542A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000382.6, RCV000492667.1,