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rs118203957

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203957(C;T)
Make rs118203957(T;T)
ReferenceGRCh37 37.1/132
Chromosome5
Position69433088
GeneMARVELD2
is asnp
is mentioned by
dbSNPrs118203957
dbSNP (classic)rs118203957
ClinGenrs118203957
ebirs118203957
HLIrs118203957
Exacrs118203957
Gnomadrs118203957
Varsomers118203957
LitVarrs118203957
Maprs118203957
PheGenIrs118203957
Biobankrs118203957
1000 genomesrs118203957
hgdprs118203957
ensemblrs118203957
geneviewrs118203957
scholarrs118203957
googlers118203957
pharmgkbrs118203957
gwascentralrs118203957
openSNPrs118203957
23andMers118203957
SNPshotrs118203957
SNPdbers118203957
MSV3drs118203957
GWAS Ctlgrs118203957
Max Magnitude0
OMIM610572
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118203957(T;T)
Alt rs118203957(T;T)
Reference Rs118203957(C;C)
Significance Pathogenic
Disease Deafness Nonsyndromic hearing loss and deafness not provided
Variation info
Gene MARVELD2
CLNDBN Deafness, neurosensory, autosomal recessive 49 Nonsyndromic hearing loss and deafness not provided
Reversed 0
HGVS NC_000005.9:g.68728915C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001257.2, RCV000156595.1, RCV000340798.1,