rs397515422

Orientation

plus

Stabilized

plus

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

Make rs397515422(C;T)

Make rs397515422(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101644783

Gene

MYBPC1

is a	snp
is	mentioned by
dbSNP	rs397515422
dbSNP (classic)	rs397515422
ClinGen	rs397515422
ebi	rs397515422
HLI	rs397515422
Exac	rs397515422
Gnomad	rs397515422
Varsome	rs397515422
LitVar	rs397515422
Map	rs397515422
PheGenI	rs397515422
Biobank	rs397515422
1000 genomes	rs397515422
hgdp	rs397515422
ensembl	rs397515422
geneview	rs397515422
scholar	rs397515422
google	rs397515422
pharmgkb	rs397515422
gwascentral	rs397515422
openSNP	rs397515422
23andMe	rs397515422
SNPshot	rs397515422
SNPdbe	rs397515422
MSV3d	rs397515422
GWAS Ctlg	rs397515422

Max Magnitude

0

ClinVar
Risk	rs397515422(T;T)
Alt	rs397515422(T;T)
Reference	Rs397515422(C;C)
Significance	Pathogenic
Disease	Lethal congenital contracture syndrome 4
Variation	info
Gene	MYBPC1
CLNDBN	Lethal congenital contracture syndrome 4
Reversed	0
HGVS	NC_000012.11:g.102038561C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032985.22,