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rs63751220

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs63751220(C;C)
Make rs63751220(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position96145065
GeneGDF6
is asnp
is mentioned by
dbSNPrs63751220
ebirs63751220
HLIrs63751220
Exacrs63751220
Varsomers63751220
Maprs63751220
PheGenIrs63751220
hapmaprs63751220
1000 genomesrs63751220
hgdprs63751220
ensemblrs63751220
gopubmedrs63751220
geneviewrs63751220
scholarrs63751220
googlers63751220
pharmgkbrs63751220
gwascentralrs63751220
openSNPrs63751220
23andMers63751220
23andMe allrs63751220
SNP Nexus

SNPshotrs63751220
SNPdbers63751220
MSV3drs63751220
GWAS Ctlgrs63751220
Max Magnitude0
OMIM601147
Desc
Variant0002
Relatedalso
OMIM118100
Desc
Variant
Relatedalso


ClinVar
Risk rs63751220(C;C)
Alt rs63751220(C;C)
Reference rs63751220(T;T)
Significance Pathogenic
Disease Klippel-Feil syndrome 1
Variation info
Gene GDF6
CLNDBN Klippel-Feil syndrome 1, autosomal dominant
Reversed 1
HGVS NC_000008.10:g.97157293A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008878.2,



[PMID 18425797] Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.