rs727505015
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TGCTGG;TGCTGG) | 0 | common in clinvar |
Make rs727505015(ATCCTACATACTTAAAATTTCTT;ATCCTACATACTTAAAATTTCTT) |
Make rs727505015(ATCCTACATACTTAAAATTTCTT;TGCTGG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 75907635 |
Gene | MYO6 |
is a | snp |
is | mentioned by |
dbSNP | rs727505015 |
dbSNP (classic) | rs727505015 |
ClinGen | rs727505015 |
ebi | rs727505015 |
HLI | rs727505015 |
Exac | rs727505015 |
Gnomad | rs727505015 |
Varsome | rs727505015 |
LitVar | rs727505015 |
Map | rs727505015 |
PheGenI | rs727505015 |
Biobank | rs727505015 |
1000 genomes | rs727505015 |
hgdp | rs727505015 |
ensembl | rs727505015 |
geneview | rs727505015 |
scholar | rs727505015 |
rs727505015 | |
pharmgkb | rs727505015 |
gwascentral | rs727505015 |
openSNP | rs727505015 |
23andMe | rs727505015 |
SNPshot | rs727505015 |
SNPdbe | rs727505015 |
MSV3d | rs727505015 |
GWAS Ctlg | rs727505015 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727505015(ATCCTACATACTTAAAATTTCTT;ATCCTACATACTTAAAATTTCTT) |
Alt | rs727505015(ATCCTACATACTTAAAATTTCTT;ATCCTACATACTTAAAATTTCTT) |
Reference | Rs727505015(TGCTGG;TGCTGG) |
Significance | Probable-Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | MYO6 |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000006.11:g.76617352_76617357delinsATCCTACATACTTAAAATTTCTT |
CLNSRC | |
CLNACC | RCV000156438.1, |