rs387907254

Orientation

plus

Stabilized

plus

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

Make rs387907254(C;C)

Make rs387907254(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

13025172

Gene

NFIX

is a	snp
is	mentioned by
dbSNP	rs387907254
dbSNP (classic)	rs387907254
ClinGen	rs387907254
ebi	rs387907254
HLI	rs387907254
Exac	rs387907254
Gnomad	rs387907254
Varsome	rs387907254
LitVar	rs387907254
Map	rs387907254
PheGenI	rs387907254
Biobank	rs387907254
1000 genomes	rs387907254
hgdp	rs387907254
ensembl	rs387907254
geneview	rs387907254
scholar	rs387907254
google	rs387907254
pharmgkb	rs387907254
gwascentral	rs387907254
openSNP	rs387907254
23andMe	rs387907254
SNPshot	rs387907254
SNPdbe	rs387907254
MSV3d	rs387907254
GWAS Ctlg	rs387907254

Max Magnitude

0

ClinVar
Risk	rs387907254(C;C)
Alt	rs387907254(C;C)
Reference	Rs387907254(T;T)
Significance	Pathogenic
Disease	Sotos syndrome 2
Variation	info
Gene	NFIX
CLNDBN	Sotos syndrome 2
Reversed	0
HGVS	NC_000019.9:g.13135986T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030646.25,