Rs118203957

From SNPedia
Jump to: navigation, search

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203957(C;T)
Make rs118203957(T;T)
ReferenceGRCh37 37.1/132
Chromosome5
Position68728915
GeneMARVELD2
is asnp
is mentioned by
dbSNPrs118203957
Exacrs118203957
PheGenIrs118203957
nextbiors118203957
hapmaprs118203957
1000 genomesrs118203957
hgdprs118203957
ensemblrs118203957
gopubmedrs118203957
geneviewrs118203957
scholarrs118203957
googlers118203957
pharmgkbrs118203957
gwascentralrs118203957
openSNPrs118203957
23andMers118203957
23andMe allrs118203957
SNP Nexus

SNPshotrs118203957
SNPdbers118203957
MSV3drs118203957
Max Magnitude0
OMIM610572
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118203957(T;T)
Alt rs118203957(T;T)
Reference rs118203957(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene MARVELD2
CLNDBN Deafness, neurosensory, autosomal recessive 49
Reversed 0
HGVS NC_000005.9:g.68728915C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001257.1,