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rs200750564

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200750564(C;T)
Make rs200750564(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position176094518
GeneHOXD13
is asnp
is mentioned by
dbSNPrs200750564
dbSNP (classic)rs200750564
ClinGenrs200750564
ebirs200750564
HLIrs200750564
Exacrs200750564
Gnomadrs200750564
Varsomers200750564
LitVarrs200750564
Maprs200750564
PheGenIrs200750564
Biobankrs200750564
1000 genomesrs200750564
hgdprs200750564
ensemblrs200750564
geneviewrs200750564
scholarrs200750564
googlers200750564
pharmgkbrs200750564
gwascentralrs200750564
openSNPrs200750564
23andMers200750564
23andMe allrs200750564
SNPshotrs200750564
SNPdbers200750564
MSV3drs200750564
GWAS Ctlgrs200750564
Max Magnitude0
ClinVar
Risk rs200750564(T;T)
Alt rs200750564(T;T)
Reference Rs200750564(C;C)
Significance Pathogenic
Disease Hypospadias Male infertility Mesoaxial hand polydactyly Oligospermia Polydactyly Syndactyly not provided
Variation info
Gene HOXD13
CLNDBN Hypospadias Male infertility Mesoaxial hand polydactyly Oligospermia Polydactyly Syndactyly not provided
Reversed 0
HGVS NC_000002.11:g.176959246C>T
CLNSRC
CLNACC RCV000415395.1, RCV000438149.1,