rs387907090

Orientation

plus

Stabilized

plus

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

Make rs387907090(C;T)

Make rs387907090(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

65078037

Gene	KBTBD13, RASL12

is a	snp
is	mentioned by
dbSNP	rs387907090
dbSNP (classic)	rs387907090
ClinGen	rs387907090
ebi	rs387907090
HLI	rs387907090
Exac	rs387907090
Gnomad	rs387907090
Varsome	rs387907090
LitVar	rs387907090
Map	rs387907090
PheGenI	rs387907090
Biobank	rs387907090
1000 genomes	rs387907090
hgdp	rs387907090
ensembl	rs387907090
geneview	rs387907090
scholar	rs387907090
google	rs387907090
pharmgkb	rs387907090
gwascentral	rs387907090
openSNP	rs387907090
23andMe	rs387907090
SNPshot	rs387907090
SNPdbe	rs387907090
MSV3d	rs387907090
GWAS Ctlg	rs387907090

Max Magnitude

0

ClinVar
Risk	rs387907090(A;A) rs387907090(T;T)
Alt	rs387907090(A;A) rs387907090(T;T)
Reference	Rs387907090(C;C)
Significance	Pathogenic
Disease	Nemaline myopathy 6
Variation	info
Gene	KBTBD13
CLNDBN	Nemaline myopathy 6
Reversed	0
HGVS	NC_000015.9:g.65370375C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024056.2,