SNP Links for Gene (Select 100506071) - SNP

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Select item 14914003011.

rs1491400301 has merged into rs11297000 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:30881218 (GRCh38)
14:31350424 (GRCh37)
Canonical SPDI:: NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.30881218_30881230del, NC_000014.9:g.30881219_30881230del, NC_000014.9:g.30881221_30881230del, NC_000014.9:g.30881223_30881230del, NC_000014.9:g.30881224_30881230del, NC_000014.9:g.30881226_30881230del, NC_000014.9:g.30881227_30881230del, NC_000014.9:g.30881228_30881230del, NC_000014.9:g.30881229_30881230del, NC_000014.9:g.30881230del, NC_000014.9:g.30881230dup, NC_000014.9:g.30881229_30881230dup, NC_000014.9:g.30881228_30881230dup, NC_000014.9:g.30881227_30881230dup, NC_000014.9:g.30881222_30881230dup, NC_000014.9:g.30881215_30881230dup, NC_000014.9:g.30881230_30881231insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.31350424_31350436del, NC_000014.8:g.31350425_31350436del, NC_000014.8:g.31350427_31350436del, NC_000014.8:g.31350429_31350436del, NC_000014.8:g.31350430_31350436del, NC_000014.8:g.31350432_31350436del, NC_000014.8:g.31350433_31350436del, NC_000014.8:g.31350434_31350436del, NC_000014.8:g.31350435_31350436del, NC_000014.8:g.31350436del, NC_000014.8:g.31350436dup, NC_000014.8:g.31350435_31350436dup, NC_000014.8:g.31350434_31350436dup, NC_000014.8:g.31350433_31350436dup, NC_000014.8:g.31350428_31350436dup, NC_000014.8:g.31350421_31350436dup, NC_000014.8:g.31350436_31350437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008211.2:g.11684_11696del, NG_008211.2:g.11685_11696del, NG_008211.2:g.11687_11696del, NG_008211.2:g.11689_11696del, NG_008211.2:g.11690_11696del, NG_008211.2:g.11692_11696del, NG_008211.2:g.11693_11696del, NG_008211.2:g.11694_11696del, NG_008211.2:g.11695_11696del, NG_008211.2:g.11696del, NG_008211.2:g.11696dup, NG_008211.2:g.11695_11696dup, NG_008211.2:g.11694_11696dup, NG_008211.2:g.11693_11696dup, NG_008211.2:g.11688_11696dup, NG_008211.2:g.11681_11696dup, NG_008211.2:g.11696_11697insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912976042.

rs1491297604 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTT [Show Flanks]
Chromosome:: 14:30882121 (GRCh38)
14:31351328 (GRCh37)
Canonical SPDI:: NC_000014.9:30882121:TTTTT:TTTTTGTTTTT
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTGTTTTT=0.00084/10 (ALFA)
TTTTTG=0.01228/577 (GnomAD)
HGVS:: NC_000014.9:g.30882122_30882126T[5]GTTTTT[1], NC_000014.8:g.31351328_31351332T[5]GTTTTT[1], NG_008211.2:g.12588_12592T[5]GTTTTT[1]

Select item 14911130793.

rs1491113079 has merged into rs61175020 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:30882132 (GRCh38)
14:31351338 (GRCh37)
Canonical SPDI:: NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:30882120:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.30882132_30882147del, NC_000014.9:g.30882133_30882147del, NC_000014.9:g.30882134_30882147del, NC_000014.9:g.30882135_30882147del, NC_000014.9:g.30882136_30882147del, NC_000014.9:g.30882137_30882147del, NC_000014.9:g.30882138_30882147del, NC_000014.9:g.30882139_30882147del, NC_000014.9:g.30882140_30882147del, NC_000014.9:g.30882141_30882147del, NC_000014.9:g.30882142_30882147del, NC_000014.9:g.30882143_30882147del, NC_000014.9:g.30882144_30882147del, NC_000014.9:g.30882145_30882147del, NC_000014.9:g.30882146_30882147del, NC_000014.9:g.30882147del, NC_000014.9:g.30882147dup, NC_000014.9:g.30882146_30882147dup, NC_000014.9:g.30882145_30882147dup, NC_000014.9:g.30882144_30882147dup, NC_000014.9:g.30882143_30882147dup, NC_000014.9:g.30882142_30882147dup, NC_000014.9:g.30882141_30882147dup, NC_000014.9:g.30882140_30882147dup, NC_000014.9:g.30882139_30882147dup, NC_000014.9:g.30882138_30882147dup, NC_000014.9:g.30882137_30882147dup, NC_000014.9:g.30882136_30882147dup, NC_000014.9:g.30882135_30882147dup, NC_000014.9:g.30882134_30882147dup, NC_000014.9:g.30882130_30882147dup, NC_000014.9:g.30882127_30882147dup, NC_000014.9:g.30882126_30882147dup, NC_000014.9:g.30882125_30882147dup, NC_000014.9:g.30882124_30882147dup, NC_000014.9:g.30882123_30882147dup, NC_000014.9:g.30882122_30882147dup, NC_000014.9:g.30882121_30882147dup, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.30882147_30882148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351338_31351353del, NC_000014.8:g.31351339_31351353del, NC_000014.8:g.31351340_31351353del, NC_000014.8:g.31351341_31351353del, NC_000014.8:g.31351342_31351353del, NC_000014.8:g.31351343_31351353del, NC_000014.8:g.31351344_31351353del, NC_000014.8:g.31351345_31351353del, NC_000014.8:g.31351346_31351353del, NC_000014.8:g.31351347_31351353del, NC_000014.8:g.31351348_31351353del, NC_000014.8:g.31351349_31351353del, NC_000014.8:g.31351350_31351353del, NC_000014.8:g.31351351_31351353del, NC_000014.8:g.31351352_31351353del, NC_000014.8:g.31351353del, NC_000014.8:g.31351353dup, NC_000014.8:g.31351352_31351353dup, NC_000014.8:g.31351351_31351353dup, NC_000014.8:g.31351350_31351353dup, NC_000014.8:g.31351349_31351353dup, NC_000014.8:g.31351348_31351353dup, NC_000014.8:g.31351347_31351353dup, NC_000014.8:g.31351346_31351353dup, NC_000014.8:g.31351345_31351353dup, NC_000014.8:g.31351344_31351353dup, NC_000014.8:g.31351343_31351353dup, NC_000014.8:g.31351342_31351353dup, NC_000014.8:g.31351341_31351353dup, NC_000014.8:g.31351340_31351353dup, NC_000014.8:g.31351336_31351353dup, NC_000014.8:g.31351333_31351353dup, NC_000014.8:g.31351332_31351353dup, NC_000014.8:g.31351331_31351353dup, NC_000014.8:g.31351330_31351353dup, NC_000014.8:g.31351329_31351353dup, NC_000014.8:g.31351328_31351353dup, NC_000014.8:g.31351327_31351353dup, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31351353_31351354insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12598_12613del, NG_008211.2:g.12599_12613del, NG_008211.2:g.12600_12613del, NG_008211.2:g.12601_12613del, NG_008211.2:g.12602_12613del, NG_008211.2:g.12603_12613del, NG_008211.2:g.12604_12613del, NG_008211.2:g.12605_12613del, NG_008211.2:g.12606_12613del, NG_008211.2:g.12607_12613del, NG_008211.2:g.12608_12613del, NG_008211.2:g.12609_12613del, NG_008211.2:g.12610_12613del, NG_008211.2:g.12611_12613del, NG_008211.2:g.12612_12613del, NG_008211.2:g.12613del, NG_008211.2:g.12613dup, NG_008211.2:g.12612_12613dup, NG_008211.2:g.12611_12613dup, NG_008211.2:g.12610_12613dup, NG_008211.2:g.12609_12613dup, NG_008211.2:g.12608_12613dup, NG_008211.2:g.12607_12613dup, NG_008211.2:g.12606_12613dup, NG_008211.2:g.12605_12613dup, NG_008211.2:g.12604_12613dup, NG_008211.2:g.12603_12613dup, NG_008211.2:g.12602_12613dup, NG_008211.2:g.12601_12613dup, NG_008211.2:g.12600_12613dup, NG_008211.2:g.12596_12613dup, NG_008211.2:g.12593_12613dup, NG_008211.2:g.12592_12613dup, NG_008211.2:g.12591_12613dup, NG_008211.2:g.12590_12613dup, NG_008211.2:g.12589_12613dup, NG_008211.2:g.12588_12613dup, NG_008211.2:g.12587_12613dup, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008211.2:g.12613_12614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910437744.

rs1491043774 has merged into rs11297000 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:30881218 (GRCh38)
14:31350424 (GRCh37)
Canonical SPDI:: NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:30881212:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.30881218_30881230del, NC_000014.9:g.30881219_30881230del, NC_000014.9:g.30881221_30881230del, NC_000014.9:g.30881223_30881230del, NC_000014.9:g.30881224_30881230del, NC_000014.9:g.30881226_30881230del, NC_000014.9:g.30881227_30881230del, NC_000014.9:g.30881228_30881230del, NC_000014.9:g.30881229_30881230del, NC_000014.9:g.30881230del, NC_000014.9:g.30881230dup, NC_000014.9:g.30881229_30881230dup, NC_000014.9:g.30881228_30881230dup, NC_000014.9:g.30881227_30881230dup, NC_000014.9:g.30881222_30881230dup, NC_000014.9:g.30881215_30881230dup, NC_000014.9:g.30881230_30881231insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.31350424_31350436del, NC_000014.8:g.31350425_31350436del, NC_000014.8:g.31350427_31350436del, NC_000014.8:g.31350429_31350436del, NC_000014.8:g.31350430_31350436del, NC_000014.8:g.31350432_31350436del, NC_000014.8:g.31350433_31350436del, NC_000014.8:g.31350434_31350436del, NC_000014.8:g.31350435_31350436del, NC_000014.8:g.31350436del, NC_000014.8:g.31350436dup, NC_000014.8:g.31350435_31350436dup, NC_000014.8:g.31350434_31350436dup, NC_000014.8:g.31350433_31350436dup, NC_000014.8:g.31350428_31350436dup, NC_000014.8:g.31350421_31350436dup, NC_000014.8:g.31350436_31350437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008211.2:g.11684_11696del, NG_008211.2:g.11685_11696del, NG_008211.2:g.11687_11696del, NG_008211.2:g.11689_11696del, NG_008211.2:g.11690_11696del, NG_008211.2:g.11692_11696del, NG_008211.2:g.11693_11696del, NG_008211.2:g.11694_11696del, NG_008211.2:g.11695_11696del, NG_008211.2:g.11696del, NG_008211.2:g.11696dup, NG_008211.2:g.11695_11696dup, NG_008211.2:g.11694_11696dup, NG_008211.2:g.11693_11696dup, NG_008211.2:g.11688_11696dup, NG_008211.2:g.11681_11696dup, NG_008211.2:g.11696_11697insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14909362525.

rs1490936252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 14:30890585 (GRCh38)
14:31359791 (GRCh37)
Canonical SPDI:: NC_000014.9:30890584:T:A,NC_000014.9:30890584:T:G
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.30890585T>A, NC_000014.9:g.30890585T>G, NC_000014.8:g.31359791T>A, NC_000014.8:g.31359791T>G, NG_008211.2:g.21051T>A, NG_008211.2:g.21051T>G, NM_004086.3:c.*794T>A, NM_004086.3:c.*794T>G, NM_004086.2:c.*794T>A, NM_004086.2:c.*794T>G, NM_001347720.2:c.*794T>A, NM_001347720.2:c.*794T>G, NM_001347720.1:c.*794T>A, NM_001347720.1:c.*794T>G, NM_001135058.2:c.*794T>A, NM_001135058.2:c.*794T>G, NM_001135058.1:c.*794T>A, NM_001135058.1:c.*794T>G, XM_017021071.2:c.*794T>A, XM_017021071.2:c.*794T>G, XM_017021071.1:c.*794T>A, XM_017021071.1:c.*794T>G, XM_024449506.1:c.*794T>A, XM_024449506.1:c.*794T>G

Select item 14907419706.

rs1490741970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:30889421 (GRCh38)
14:31358627 (GRCh37)
Canonical SPDI:: NC_000014.9:30889420:T:C
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.30889421T>C, NC_000014.8:g.31358627T>C, NG_008211.2:g.19887T>C, NR_038356.1:n.388A>G

Select item 14907107587.

rs1490710758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:30891481 (GRCh38)
14:31360687 (GRCh37)
Canonical SPDI:: NC_000014.9:30891480:T:C
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.30891481T>C, NC_000014.8:g.31360687T>C, NG_008211.2:g.21947T>C

Select item 14904553408.

rs1490455340 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:30877133 (GRCh38)
14:31346339 (GRCh37)
Canonical SPDI:: NC_000014.9:30877132:A:G
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.30877133A>G, NC_000014.8:g.31346339A>G, NG_008211.2:g.7599A>G

Select item 14902232959.

rs1490223295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:30882012 (GRCh38)
14:31351218 (GRCh37)
Canonical SPDI:: NC_000014.9:30882011:T:A
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.30882012T>A, NC_000014.8:g.31351218T>A, NG_008211.2:g.12478T>A

Select item 149004544710.

rs1490045447 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:30889777 (GRCh38)
14:31358984 (GRCh37)
Canonical SPDI:: NC_000014.9:30889777:AA:AAA
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.30889779dup, NC_000014.8:g.31358985dup, NG_008211.2:g.20245dup, NM_004086.3:c.1641dup, NM_004086.2:c.1641dup, NM_001347720.2:c.1836dup, NM_001347720.1:c.1836dup, NM_001135058.2:c.1641dup, NM_001135058.1:c.1641dup, XM_017021071.2:c.1836dup, XM_017021071.1:c.1836dup, XM_047431063.1:c.1836dup, XM_047431062.1:c.1893dup, XM_024449506.1:c.1698dup, XM_047431064.1:c.1641dup, NR_038356.1:n.31dup, NP_004077.1:p.Ser548fs, NP_001334649.1:p.Ser613fs, NP_001128530.1:p.Ser548fs, XP_016876560.1:p.Ser613fs, XP_047287019.1:p.Ser613fs, XP_047287018.1:p.Ser632fs, XP_024305274.1:p.Ser567fs, XP_047287020.1:p.Ser548fs

Select item 148995134111.

rs1489951341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:30888629 (GRCh38)
14:31357835 (GRCh37)
Canonical SPDI:: NC_000014.9:30888628:A:G
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.30888629A>G, NC_000014.8:g.31357835A>G, NG_008211.2:g.19095A>G

Select item 148964090612.

rs1489640906 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:30876107 (GRCh38)
14:31345313 (GRCh37)
Canonical SPDI:: NC_000014.9:30876106:T:C,NC_000014.9:30876106:T:G
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.30876107T>C, NC_000014.9:g.30876107T>G, NC_000014.8:g.31345313T>C, NC_000014.8:g.31345313T>G, NG_008211.2:g.6573T>C, NG_008211.2:g.6573T>G

Select item 148947812313.

rs1489478123 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:30887683 (GRCh38)
14:31356889 (GRCh37)
Canonical SPDI:: NC_000014.9:30887682:T:C
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.30887683T>C, NC_000014.8:g.31356889T>C, NG_008211.2:g.18149T>C

Select item 148932873214.

rs1489328732 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATTTATAATGGAAGTATAC [Show Flanks]
Chromosome:: 14:30884813 (GRCh38)
14:31354020 (GRCh37)
Canonical SPDI:: NC_000014.9:30884813:CAATTTATAATGGAAGTATAC:CAATTTATAATGGAAGTATACAATTTATAATGGAAGTATAC
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CAATTTATAATGGAAGTATACAATTTATAATGGAAGTATAC=0./0 (ALFA)
CAATTTATAATGGAAGTATA=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.30884815_30884834dup, NC_000014.8:g.31354021_31354040dup, NG_008211.2:g.15281_15300dup

Select item 148903233815.

rs1489032338 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:30880704 (GRCh38)
14:31349910 (GRCh37)
Canonical SPDI:: NC_000014.9:30880703:A:G
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.30880704A>G, NC_000014.8:g.31349910A>G, NG_008211.2:g.11170A>G, NM_004086.3:c.599A>G, NM_004086.2:c.599A>G, NM_001347720.2:c.794A>G, NM_001347720.1:c.794A>G, NM_001135058.2:c.599A>G, NM_001135058.1:c.599A>G, XM_017021071.2:c.794A>G, XM_017021071.1:c.794A>G, XM_047431063.1:c.794A>G, XM_047431062.1:c.794A>G, XM_024449506.1:c.599A>G, XM_047431064.1:c.599A>G, NP_004077.1:p.Glu200Gly, NP_001334649.1:p.Glu265Gly, NP_001128530.1:p.Glu200Gly, XP_016876560.1:p.Glu265Gly, XP_047287019.1:p.Glu265Gly, XP_047287018.1:p.Glu265Gly, XP_024305274.1:p.Glu200Gly, XP_047287020.1:p.Glu200Gly

Select item 148901981316.

rs1489019813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:30881763 (GRCh38)
14:31350969 (GRCh37)
Canonical SPDI:: NC_000014.9:30881762:C:A
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.30881763C>A, NC_000014.8:g.31350969C>A, NG_008211.2:g.12229C>A

Select item 148896378717.

rs1488963787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 14:30876771 (GRCh38)
14:31345977 (GRCh37)
Canonical SPDI:: NC_000014.9:30876770:A:C,NC_000014.9:30876770:A:G
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.30876771A>C, NC_000014.9:g.30876771A>G, NC_000014.8:g.31345977A>C, NC_000014.8:g.31345977A>G, NG_008211.2:g.7237A>C, NG_008211.2:g.7237A>G

Select item 148885828918.

rs1488858289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:30890971 (GRCh38)
14:31360177 (GRCh37)
Canonical SPDI:: NC_000014.9:30890970:C:T
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.30890971C>T, NC_000014.8:g.31360177C>T, NG_008211.2:g.21437C>T

Select item 148874863319.

rs1488748633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:30883167 (GRCh38)
14:31352373 (GRCh37)
Canonical SPDI:: NC_000014.9:30883166:T:C
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000014.9:g.30883167T>C, NC_000014.8:g.31352373T>C, NG_008211.2:g.13633T>C

Select item 148865897920.

rs1488658979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:30886287 (GRCh38)
14:31355493 (GRCh37)
Canonical SPDI:: NC_000014.9:30886286:C:A,NC_000014.9:30886286:C:T
Gene:: COCH (Varview), LOC100506071 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.30886287C>A, NC_000014.9:g.30886287C>T, NC_000014.8:g.31355493C>A, NC_000014.8:g.31355493C>T, NG_008211.2:g.16753C>A, NG_008211.2:g.16753C>T, NM_004086.3:c.1452C>A, NM_004086.3:c.1452C>T, NM_004086.2:c.1452C>A, NM_004086.2:c.1452C>T, NM_001347720.2:c.1647C>A, NM_001347720.2:c.1647C>T, NM_001347720.1:c.1647C>A, NM_001347720.1:c.1647C>T, NM_001135058.2:c.1452C>A, NM_001135058.2:c.1452C>T, NM_001135058.1:c.1452C>A, NM_001135058.1:c.1452C>T, XM_017021071.2:c.1647C>A, XM_017021071.2:c.1647C>T, XM_017021071.1:c.1647C>A, XM_017021071.1:c.1647C>T, XM_047431063.1:c.1647C>A, XM_047431063.1:c.1647C>T, XM_047431062.1:c.1704C>A, XM_047431062.1:c.1704C>T, XM_024449506.1:c.1509C>A, XM_024449506.1:c.1509C>T, XM_047431064.1:c.1452C>A, XM_047431064.1:c.1452C>T, NR_038356.1:n.578G>T, NR_038356.1:n.578G>A

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