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rs749355583

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs749355583(C;G)
Make rs749355583(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position142309560
GeneADGRG6
is asnp
is mentioned by
dbSNPrs749355583
ebirs749355583
HLIrs749355583
Exacrs749355583
Varsomers749355583
Maprs749355583
PheGenIrs749355583
hapmaprs749355583
1000 genomesrs749355583
hgdprs749355583
ensemblrs749355583
gopubmedrs749355583
geneviewrs749355583
scholarrs749355583
googlers749355583
pharmgkbrs749355583
gwascentralrs749355583
openSNPrs749355583
23andMers749355583
23andMe allrs749355583
SNP Nexus

SNPshotrs749355583
SNPdbers749355583
MSV3drs749355583
GWAS Ctlgrs749355583
Max Magnitude0
ClinVar
Risk rs749355583(G,T;G,T)
Alt rs749355583(G,T;G,T)
Reference rs749355583(C;C)
Significance Pathogenic
Disease Arthrogryposis multiplex congenita Lethal congenital contracture syndrome 9
Variation info
Gene GPR126 ADGRG6
CLNDBN Arthrogryposis multiplex congenita Lethal congenital contracture syndrome 9
Reversed 0
HGVS NC_000006.11:g.142630697C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000172977.1, RCV000186598.2,