rs730882236

Orientation

plus

Stabilized

plus

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

Make rs730882236(A;G)

Make rs730882236(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

39699477

Gene

COG6

is a	snp
is	mentioned by
dbSNP	rs730882236
dbSNP (classic)	rs730882236
ClinGen	rs730882236
ebi	rs730882236
HLI	rs730882236
Exac	rs730882236
Gnomad	rs730882236
Varsome	rs730882236
LitVar	rs730882236
Map	rs730882236
PheGenI	rs730882236
Biobank	rs730882236
1000 genomes	rs730882236
hgdp	rs730882236
ensembl	rs730882236
geneview	rs730882236
scholar	rs730882236
google	rs730882236
pharmgkb	rs730882236
gwascentral	rs730882236
openSNP	rs730882236
23andMe	rs730882236
SNPshot	rs730882236
SNPdbe	rs730882236
MSV3d	rs730882236
GWAS Ctlg	rs730882236

Max Magnitude

0

ClinVar
Risk	rs730882236(G;G)
Alt	rs730882236(G;G)
Reference	Rs730882236(A;A)
Significance	Pathogenic
Disease	Shaheen syndrome Hyphidrosis Intellectual disability Congenital disorder of glycosylation type 2L
Variation	info
Gene	COG6
CLNDBN	Shaheen syndrome Hyphidrosis Intellectual disability Congenital disorder of glycosylation type 2L
Reversed	0
HGVS	NC_000013.10:g.40273614A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000050228.3, RCV000162165.1, RCV000322754.1,