rs587776905

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	3	Carrier of a meconium ileus mutation
(T;T)	0	common in clinvar

Make rs587776905(C;C)

Reference

GRCh38 38.1/142

Chromosome

12

Position

14672883

Gene	C12orf60, GUCY2C

is a	snp
is	mentioned by
dbSNP	rs587776905
dbSNP (classic)	rs587776905
ClinGen	rs587776905
ebi	rs587776905
HLI	rs587776905
Exac	rs587776905
Gnomad	rs587776905
Varsome	rs587776905
LitVar	rs587776905
Map	rs587776905
PheGenI	rs587776905
Biobank	rs587776905
1000 genomes	rs587776905
hgdp	rs587776905
ensembl	rs587776905
geneview	rs587776905
scholar	rs587776905
google	rs587776905
pharmgkb	rs587776905
gwascentral	rs587776905
openSNP	rs587776905
23andMe	rs587776905
SNPshot	rs587776905
SNPdbe	rs587776905
MSV3d	rs587776905
GWAS Ctlg	rs587776905

Max Magnitude

3

aka c.1160A>G (p.Asp387Gly or D387G)

ClinVar
Risk	rs587776905(C;C)
Alt	rs587776905(C;C)
Reference	Rs587776905(T;T)
Significance	Pathogenic
Disease	Meconium ileus
Variation	info
Gene	GUCY2C
CLNDBN	Meconium ileus
Reversed	0
HGVS	NC_000012.11:g.14825817T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024308.2,