rs387906657

Orientation

plus

Stabilized

plus

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

Make rs387906657(C;C)

Make rs387906657(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101642459

Gene

MYBPC1

is a	snp
is	mentioned by
dbSNP	rs387906657
dbSNP (classic)	rs387906657
ClinGen	rs387906657
ebi	rs387906657
HLI	rs387906657
Exac	rs387906657
Gnomad	rs387906657
Varsome	rs387906657
LitVar	rs387906657
Map	rs387906657
PheGenI	rs387906657
Biobank	rs387906657
1000 genomes	rs387906657
hgdp	rs387906657
ensembl	rs387906657
geneview	rs387906657
scholar	rs387906657
google	rs387906657
pharmgkb	rs387906657
gwascentral	rs387906657
openSNP	rs387906657
23andMe	rs387906657
SNPshot	rs387906657
SNPdbe	rs387906657
MSV3d	rs387906657
GWAS Ctlg	rs387906657

Max Magnitude

0

ClinVar
Risk	rs387906657(C;C)
Alt	rs387906657(C;C)
Reference	Rs387906657(T;T)
Significance	Pathogenic
Disease	Distal arthrogryposis type 1B
Variation	info
Gene	MYBPC1
CLNDBN	Distal arthrogryposis type 1B
Reversed	0
HGVS	NC_000012.11:g.102036237T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022670.26,