rs786204798

Orientation

minus

Stabilized

minus

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

Make rs786204798(C;T)

Make rs786204798(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

48768972

Gene

ADCY6

is a	snp
is	mentioned by
dbSNP	rs786204798
dbSNP (classic)	rs786204798
ClinGen	rs786204798
ebi	rs786204798
HLI	rs786204798
Exac	rs786204798
Gnomad	rs786204798
Varsome	rs786204798
LitVar	rs786204798
Map	rs786204798
PheGenI	rs786204798
Biobank	rs786204798
1000 genomes	rs786204798
hgdp	rs786204798
ensembl	rs786204798
geneview	rs786204798
scholar	rs786204798
google	rs786204798
pharmgkb	rs786204798
gwascentral	rs786204798
openSNP	rs786204798
23andMe	rs786204798
SNPshot	rs786204798
SNPdbe	rs786204798
MSV3d	rs786204798
GWAS Ctlg	rs786204798

Max Magnitude

0

ClinVar
Risk	rs786204798(T;T)
Alt	rs786204798(T;T)
Reference	Rs786204798(C;C)
Significance	Pathogenic
Disease	Lethal congenital contracture syndrome 8
Variation	info
Gene	ADCY6
CLNDBN	Lethal congenital contracture syndrome 8
Reversed	1
HGVS	NC_000012.11:g.49162755G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000169693.3,