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rs587776998

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776998(G;T)
Make rs587776998(T;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position26501147
GeneKCTD1
is asnp
is mentioned by
dbSNPrs587776998
dbSNP (classic)rs587776998
ClinGenrs587776998
ebirs587776998
HLIrs587776998
Exacrs587776998
Gnomadrs587776998
Varsomers587776998
LitVarrs587776998
Maprs587776998
PheGenIrs587776998
Biobankrs587776998
1000 genomesrs587776998
hgdprs587776998
ensemblrs587776998
geneviewrs587776998
scholarrs587776998
googlers587776998
pharmgkbrs587776998
gwascentralrs587776998
openSNPrs587776998
23andMers587776998
SNPshotrs587776998
SNPdbers587776998
MSV3drs587776998
GWAS Ctlgrs587776998
Max Magnitude0
ClinVar
Risk rs587776998(T;T)
Alt rs587776998(T;T)
Reference Rs587776998(G;G)
Significance Pathogenic
Disease Scalp ear nipple syndrome
Variation info
Gene KCTD1
CLNDBN Scalp ear nipple syndrome
Reversed 0
HGVS NC_000018.9:g.24081111G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000049292.4,