rs387907076

Orientation

plus

Stabilized

plus

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

Make rs387907076(A;A)

Make rs387907076(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

3643912

Gene	ALLC, COLEC11

is a	snp
is	mentioned by
dbSNP	rs387907076
dbSNP (classic)	rs387907076
ClinGen	rs387907076
ebi	rs387907076
HLI	rs387907076
Exac	rs387907076
Gnomad	rs387907076
Varsome	rs387907076
LitVar	rs387907076
Map	rs387907076
PheGenI	rs387907076
Biobank	rs387907076
1000 genomes	rs387907076
hgdp	rs387907076
ensembl	rs387907076
geneview	rs387907076
scholar	rs387907076
google	rs387907076
pharmgkb	rs387907076
gwascentral	rs387907076
openSNP	rs387907076
23andMe	rs387907076
SNPshot	rs387907076
SNPdbe	rs387907076
MSV3d	rs387907076
GWAS Ctlg	rs387907076

Max Magnitude

0

ClinVar
Risk	rs387907076(A;A)
Alt	rs387907076(A;A)
Reference	Rs387907076(G;G)
Significance	Pathogenic
Disease	Carnevale syndrome
Variation	info
Gene	COLEC11
CLNDBN	Carnevale syndrome
Reversed	0
HGVS	NC_000002.11:g.3691502G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023961.2,