SNP Links for Nucleotide (Select 1051793797) - SNP

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Select item 14914069381.

rs1491406938 has merged into rs59672948 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:112051516 (GRCh38)
2:112809093 (GRCh37)
Canonical SPDI:: NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112051508:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.112051516_112051530del, NC_000002.12:g.112051518_112051530del, NC_000002.12:g.112051519_112051530del, NC_000002.12:g.112051520_112051530del, NC_000002.12:g.112051521_112051530del, NC_000002.12:g.112051522_112051530del, NC_000002.12:g.112051523_112051530del, NC_000002.12:g.112051524_112051530del, NC_000002.12:g.112051525_112051530del, NC_000002.12:g.112051526_112051530del, NC_000002.12:g.112051527_112051530del, NC_000002.12:g.112051528_112051530del, NC_000002.12:g.112051529_112051530del, NC_000002.12:g.112051530del, NC_000002.12:g.112051530dup, NC_000002.12:g.112051529_112051530dup, NC_000002.12:g.112051528_112051530dup, NC_000002.12:g.112051527_112051530dup, NC_000002.12:g.112051526_112051530dup, NC_000002.12:g.112051525_112051530dup, NC_000002.12:g.112051524_112051530dup, NC_000002.12:g.112051523_112051530dup, NC_000002.12:g.112051522_112051530dup, NC_000002.12:g.112051521_112051530dup, NC_000002.12:g.112051520_112051530dup, NC_000002.12:g.112051519_112051530dup, NC_000002.12:g.112051518_112051530dup, NC_000002.12:g.112051517_112051530dup, NC_000002.12:g.112051514_112051530dup, NC_000002.11:g.112809093_112809107del, NC_000002.11:g.112809095_112809107del, NC_000002.11:g.112809096_112809107del, NC_000002.11:g.112809097_112809107del, NC_000002.11:g.112809098_112809107del, NC_000002.11:g.112809099_112809107del, NC_000002.11:g.112809100_112809107del, NC_000002.11:g.112809101_112809107del, NC_000002.11:g.112809102_112809107del, NC_000002.11:g.112809103_112809107del, NC_000002.11:g.112809104_112809107del, NC_000002.11:g.112809105_112809107del, NC_000002.11:g.112809106_112809107del, NC_000002.11:g.112809107del, NC_000002.11:g.112809107dup, NC_000002.11:g.112809106_112809107dup, NC_000002.11:g.112809105_112809107dup, NC_000002.11:g.112809104_112809107dup, NC_000002.11:g.112809103_112809107dup, NC_000002.11:g.112809102_112809107dup, NC_000002.11:g.112809101_112809107dup, NC_000002.11:g.112809100_112809107dup, NC_000002.11:g.112809099_112809107dup, NC_000002.11:g.112809098_112809107dup, NC_000002.11:g.112809097_112809107dup, NC_000002.11:g.112809096_112809107dup, NC_000002.11:g.112809095_112809107dup, NC_000002.11:g.112809094_112809107dup, NC_000002.11:g.112809091_112809107dup, NG_051358.1:g.1294_1308del, NG_051358.1:g.1296_1308del, NG_051358.1:g.1297_1308del, NG_051358.1:g.1298_1308del, NG_051358.1:g.1299_1308del, NG_051358.1:g.1300_1308del, NG_051358.1:g.1301_1308del, NG_051358.1:g.1302_1308del, NG_051358.1:g.1303_1308del, NG_051358.1:g.1304_1308del, NG_051358.1:g.1305_1308del, NG_051358.1:g.1306_1308del, NG_051358.1:g.1307_1308del, NG_051358.1:g.1308del, NG_051358.1:g.1308dup, NG_051358.1:g.1307_1308dup, NG_051358.1:g.1306_1308dup, NG_051358.1:g.1305_1308dup, NG_051358.1:g.1304_1308dup, NG_051358.1:g.1303_1308dup, NG_051358.1:g.1302_1308dup, NG_051358.1:g.1301_1308dup, NG_051358.1:g.1300_1308dup, NG_051358.1:g.1299_1308dup, NG_051358.1:g.1298_1308dup, NG_051358.1:g.1297_1308dup, NG_051358.1:g.1296_1308dup, NG_051358.1:g.1295_1308dup, NG_051358.1:g.1292_1308dup

Select item 14913918362.

rs1491391836 has merged into rs35280651 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:112107366 (GRCh38)
2:112864943 (GRCh37)
Canonical SPDI:: NC_000002.12:112107357:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:112107357:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:112107357:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:112107357:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:112107357:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:112107357:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:112107357:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:112107357:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:112107357:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:112107357:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112107357:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112107357:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112107357:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM87B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000002.12:g.112107366_112107376del, NC_000002.12:g.112107367_112107376del, NC_000002.12:g.112107369_112107376del, NC_000002.12:g.112107370_112107376del, NC_000002.12:g.112107373_112107376del, NC_000002.12:g.112107374_112107376del, NC_000002.12:g.112107375_112107376del, NC_000002.12:g.112107376del, NC_000002.12:g.112107376dup, NC_000002.12:g.112107375_112107376dup, NC_000002.12:g.112107374_112107376dup, NC_000002.12:g.112107373_112107376dup, NC_000002.12:g.112107372_112107376dup, NC_000002.11:g.112864943_112864953del, NC_000002.11:g.112864944_112864953del, NC_000002.11:g.112864946_112864953del, NC_000002.11:g.112864947_112864953del, NC_000002.11:g.112864950_112864953del, NC_000002.11:g.112864951_112864953del, NC_000002.11:g.112864952_112864953del, NC_000002.11:g.112864953del, NC_000002.11:g.112864953dup, NC_000002.11:g.112864952_112864953dup, NC_000002.11:g.112864951_112864953dup, NC_000002.11:g.112864950_112864953dup, NC_000002.11:g.112864949_112864953dup, NG_051358.1:g.57144_57154del, NG_051358.1:g.57145_57154del, NG_051358.1:g.57147_57154del, NG_051358.1:g.57148_57154del, NG_051358.1:g.57151_57154del, NG_051358.1:g.57152_57154del, NG_051358.1:g.57153_57154del, NG_051358.1:g.57154del, NG_051358.1:g.57154dup, NG_051358.1:g.57153_57154dup, NG_051358.1:g.57152_57154dup, NG_051358.1:g.57151_57154dup, NG_051358.1:g.57150_57154dup

Select item 14913615323.

rs1491361532 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,ATA,ATAA,ATATA,ATATAA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATTTATATATATATA,ATTTATATATATATA [Show Flanks]
Chromosome:: 2:112051509 (GRCh38)
2:112809087 (GRCh37)
Canonical SPDI:: NC_000002.12:112051509::A,NC_000002.12:112051509::AA,NC_000002.12:112051509::ATA,NC_000002.12:112051509::ATAA,NC_000002.12:112051509::ATATA,NC_000002.12:112051509::ATATAA,NC_000002.12:112051509::ATATATA,NC_000002.12:112051509::ATATATATA,NC_000002.12:112051509::ATATATATATA,NC_000002.12:112051509::ATATATATATATA,NC_000002.12:112051509::ATATATATATATATA,NC_000002.12:112051509::ATATATATATATATATA,NC_000002.12:112051509::ATATTTATATATATATA,NC_000002.12:112051509::ATTTATATATATATA
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000002.12:g.112051509_112051510insA, NC_000002.12:g.112051509_112051510insAA, NC_000002.12:g.112051509_112051510insATA, NC_000002.12:g.112051509_112051510insATAA, NC_000002.12:g.112051509_112051510insATATA, NC_000002.12:g.112051509_112051510insATATAA, NC_000002.12:g.112051509_112051510insATATATA, NC_000002.12:g.112051509_112051510insATATATATA, NC_000002.12:g.112051509_112051510insATATATATATA, NC_000002.12:g.112051509_112051510insATATATATATATA, NC_000002.12:g.112051509_112051510insATATATATATATATA, NC_000002.12:g.112051509_112051510insATATATATATATATATA, NC_000002.12:g.112051509_112051510insATATTTATATATATATA, NC_000002.12:g.112051509_112051510insATTTATATATATATA, NC_000002.11:g.112809086_112809087insA, NC_000002.11:g.112809086_112809087insAA, NC_000002.11:g.112809086_112809087insATA, NC_000002.11:g.112809086_112809087insATAA, NC_000002.11:g.112809086_112809087insATATA, NC_000002.11:g.112809086_112809087insATATAA, NC_000002.11:g.112809086_112809087insATATATA, NC_000002.11:g.112809086_112809087insATATATATA, NC_000002.11:g.112809086_112809087insATATATATATA, NC_000002.11:g.112809086_112809087insATATATATATATA, NC_000002.11:g.112809086_112809087insATATATATATATATA, NC_000002.11:g.112809086_112809087insATATATATATATATATA, NC_000002.11:g.112809086_112809087insATATTTATATATATATA, NC_000002.11:g.112809086_112809087insATTTATATATATATA, NG_051358.1:g.1287_1288insA, NG_051358.1:g.1287_1288insAA, NG_051358.1:g.1287_1288insATA, NG_051358.1:g.1287_1288insATAA, NG_051358.1:g.1287_1288insATATA, NG_051358.1:g.1287_1288insATATAA, NG_051358.1:g.1287_1288insATATATA, NG_051358.1:g.1287_1288insATATATATA, NG_051358.1:g.1287_1288insATATATATATA, NG_051358.1:g.1287_1288insATATATATATATA, NG_051358.1:g.1287_1288insATATATATATATATA, NG_051358.1:g.1287_1288insATATATATATATATATA, NG_051358.1:g.1287_1288insATATTTATATATATATA, NG_051358.1:g.1287_1288insATTTATATATATATA

Select item 14913248654.

rs1491324865 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:112097712 (GRCh38)
2:112855289 (GRCh37)
Canonical SPDI:: NC_000002.12:112097711:CA:
Gene:: TMEM87B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.112097712_112097713del, NC_000002.11:g.112855289_112855290del, NG_051358.1:g.47490_47491del

Select item 14912775975.

rs1491277597 has merged into rs68175814 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:112097725 (GRCh38)
2:112855302 (GRCh37)
Canonical SPDI:: NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112097712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM87B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.112097725_112097737del, NC_000002.12:g.112097727_112097737del, NC_000002.12:g.112097728_112097737del, NC_000002.12:g.112097729_112097737del, NC_000002.12:g.112097730_112097737del, NC_000002.12:g.112097731_112097737del, NC_000002.12:g.112097732_112097737del, NC_000002.12:g.112097733_112097737del, NC_000002.12:g.112097734_112097737del, NC_000002.12:g.112097735_112097737del, NC_000002.12:g.112097736_112097737del, NC_000002.12:g.112097737del, NC_000002.12:g.112097737dup, NC_000002.12:g.112097736_112097737dup, NC_000002.12:g.112097735_112097737dup, NC_000002.12:g.112097734_112097737dup, NC_000002.12:g.112097733_112097737dup, NC_000002.12:g.112097732_112097737dup, NC_000002.12:g.112097729_112097737dup, NC_000002.12:g.112097723_112097737dup, NC_000002.12:g.112097713_112097737dup, NC_000002.12:g.112097737_112097738insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.112855302_112855314del, NC_000002.11:g.112855304_112855314del, NC_000002.11:g.112855305_112855314del, NC_000002.11:g.112855306_112855314del, NC_000002.11:g.112855307_112855314del, NC_000002.11:g.112855308_112855314del, NC_000002.11:g.112855309_112855314del, NC_000002.11:g.112855310_112855314del, NC_000002.11:g.112855311_112855314del, NC_000002.11:g.112855312_112855314del, NC_000002.11:g.112855313_112855314del, NC_000002.11:g.112855314del, NC_000002.11:g.112855314dup, NC_000002.11:g.112855313_112855314dup, NC_000002.11:g.112855312_112855314dup, NC_000002.11:g.112855311_112855314dup, NC_000002.11:g.112855310_112855314dup, NC_000002.11:g.112855309_112855314dup, NC_000002.11:g.112855306_112855314dup, NC_000002.11:g.112855300_112855314dup, NC_000002.11:g.112855290_112855314dup, NC_000002.11:g.112855314_112855315insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051358.1:g.47503_47515del, NG_051358.1:g.47505_47515del, NG_051358.1:g.47506_47515del, NG_051358.1:g.47507_47515del, NG_051358.1:g.47508_47515del, NG_051358.1:g.47509_47515del, NG_051358.1:g.47510_47515del, NG_051358.1:g.47511_47515del, NG_051358.1:g.47512_47515del, NG_051358.1:g.47513_47515del, NG_051358.1:g.47514_47515del, NG_051358.1:g.47515del, NG_051358.1:g.47515dup, NG_051358.1:g.47514_47515dup, NG_051358.1:g.47513_47515dup, NG_051358.1:g.47512_47515dup, NG_051358.1:g.47511_47515dup, NG_051358.1:g.47510_47515dup, NG_051358.1:g.47507_47515dup, NG_051358.1:g.47501_47515dup, NG_051358.1:g.47491_47515dup, NG_051358.1:g.47515_47516insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912640876.

rs1491264087 has merged into rs1478581933 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTTT [Show Flanks]
Chromosome:: 2:112076842 (GRCh38)
2:112834419 (GRCh37)
Canonical SPDI:: NC_000002.12:112076839:TTTT:TT,NC_000002.12:112076839:TTTT:TTT,NC_000002.12:112076839:TTTT:TTTTTT
Gene:: TMEM87B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.00035/6 (TOMMO)
-=0.00109/2 (Korea1K)
HGVS:: NC_000002.12:g.112076842_112076843del, NC_000002.12:g.112076843del, NC_000002.12:g.112076842_112076843dup, NC_000002.11:g.112834419_112834420del, NC_000002.11:g.112834420del, NC_000002.11:g.112834419_112834420dup, NG_051358.1:g.26620_26621del, NG_051358.1:g.26621del, NG_051358.1:g.26620_26621dup

Select item 14912563347.

rs1491256334 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:112107357 (GRCh38)
2:112864934 (GRCh37)
Canonical SPDI:: NC_000002.12:112107356:CA:
Gene:: TMEM87B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.112107357_112107358del, NC_000002.11:g.112864934_112864935del, NG_051358.1:g.57135_57136del

Select item 14912447578.

rs1491244757 has merged into rs35044756 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:112077046 (GRCh38)
2:112834623 (GRCh37)
Canonical SPDI:: NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112077038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM87B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.355232/1779 (1000Genomes)
A=0.375/15 (GENOME_DK)
HGVS:: NC_000002.12:g.112077046_112077056del, NC_000002.12:g.112077048_112077056del, NC_000002.12:g.112077049_112077056del, NC_000002.12:g.112077050_112077056del, NC_000002.12:g.112077051_112077056del, NC_000002.12:g.112077052_112077056del, NC_000002.12:g.112077053_112077056del, NC_000002.12:g.112077054_112077056del, NC_000002.12:g.112077055_112077056del, NC_000002.12:g.112077056del, NC_000002.12:g.112077056dup, NC_000002.12:g.112077055_112077056dup, NC_000002.12:g.112077054_112077056dup, NC_000002.12:g.112077053_112077056dup, NC_000002.12:g.112077052_112077056dup, NC_000002.12:g.112077048_112077056dup, NC_000002.11:g.112834623_112834633del, NC_000002.11:g.112834625_112834633del, NC_000002.11:g.112834626_112834633del, NC_000002.11:g.112834627_112834633del, NC_000002.11:g.112834628_112834633del, NC_000002.11:g.112834629_112834633del, NC_000002.11:g.112834630_112834633del, NC_000002.11:g.112834631_112834633del, NC_000002.11:g.112834632_112834633del, NC_000002.11:g.112834633del, NC_000002.11:g.112834633dup, NC_000002.11:g.112834632_112834633dup, NC_000002.11:g.112834631_112834633dup, NC_000002.11:g.112834630_112834633dup, NC_000002.11:g.112834629_112834633dup, NC_000002.11:g.112834625_112834633dup, NG_051358.1:g.26824_26834del, NG_051358.1:g.26826_26834del, NG_051358.1:g.26827_26834del, NG_051358.1:g.26828_26834del, NG_051358.1:g.26829_26834del, NG_051358.1:g.26830_26834del, NG_051358.1:g.26831_26834del, NG_051358.1:g.26832_26834del, NG_051358.1:g.26833_26834del, NG_051358.1:g.26834del, NG_051358.1:g.26834dup, NG_051358.1:g.26833_26834dup, NG_051358.1:g.26832_26834dup, NG_051358.1:g.26831_26834dup, NG_051358.1:g.26830_26834dup, NG_051358.1:g.26826_26834dup

Select item 14912036739.

rs1491203673 has merged into rs34157628 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>-,TCTC [Show Flanks]
Chromosome:: 2:112050309 (GRCh38)
2:112807886 (GRCh37)
Canonical SPDI:: NC_000002.12:112050305:CTCTC:CTC,NC_000002.12:112050305:CTCTC:CTCTCTC
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTC=0.161345/1991 (ALFA)
-=0.00184/7 (1000Genomes)
CT=0.09607/176 (Korea1K)
CT=0.120081/2013 (TOMMO)
CT=0.252381/53 (Vietnamese)
CT=0.275/11 (GENOME_DK)
CT=0.275556/72937 (TOPMED)
CT=0.285811/1273 (Estonian)
HGVS:: NC_000002.12:g.112050307TC[1], NC_000002.12:g.112050307TC[3], NC_000002.11:g.112807884TC[1], NC_000002.11:g.112807884TC[3], NG_051358.1:g.85TC[1], NG_051358.1:g.85TC[3]

Select item 149117881410.

rs1491178814 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:112077039 (GRCh38)
2:112834617 (GRCh37)
Canonical SPDI:: NC_000002.12:112077039::G
Gene:: TMEM87B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.112077039_112077040insG, NC_000002.11:g.112834616_112834617insG, NG_051358.1:g.26817_26818insG

Select item 149112281911.

rs1491122819 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:112076840 (GRCh38)
2:112834418 (GRCh37)
Canonical SPDI:: NC_000002.12:112076840:T:TGT,NC_000002.12:112076840:T:TGTGT,NC_000002.12:112076840:T:TGTGTGT,NC_000002.12:112076840:T:TGTGTGTGT,NC_000002.12:112076840:T:TGTGTGTGTGT,NC_000002.12:112076840:T:TGTGTGTGTGTGT,NC_000002.12:112076840:T:TGTGTGTGTGTGTGT
Gene:: TMEM87B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.112076841_112076842insGT, NC_000002.12:g.112076841_112076842insGTGT, NC_000002.12:g.112076842GT[3], NC_000002.12:g.112076842GT[4], NC_000002.12:g.112076842GT[5], NC_000002.12:g.112076842GT[6], NC_000002.12:g.112076842GT[7], NC_000002.11:g.112834418_112834419insGT, NC_000002.11:g.112834418_112834419insGTGT, NC_000002.11:g.112834419GT[3], NC_000002.11:g.112834419GT[4], NC_000002.11:g.112834419GT[5], NC_000002.11:g.112834419GT[6], NC_000002.11:g.112834419GT[7], NG_051358.1:g.26619_26620insGT, NG_051358.1:g.26619_26620insGTGT, NG_051358.1:g.26620GT[3], NG_051358.1:g.26620GT[4], NG_051358.1:g.26620GT[5], NG_051358.1:g.26620GT[6], NG_051358.1:g.26620GT[7]

Select item 149106925812.

rs1491069258 has merged into rs35529673 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 2:112052545 (GRCh38)
2:112810122 (GRCh37)
Canonical SPDI:: NC_000002.12:112052535:TTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:112052535:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:112052535:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:112052535:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:112052535:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:112052535:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:112052535:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.2093/1048 (1000Genomes)
HGVS:: NC_000002.12:g.112052545_112052547del, NC_000002.12:g.112052546_112052547del, NC_000002.12:g.112052547del, NC_000002.12:g.112052547dup, NC_000002.12:g.112052546_112052547dup, NC_000002.12:g.112052545_112052547dup, NC_000002.12:g.112052544_112052547dup, NC_000002.11:g.112810122_112810124del, NC_000002.11:g.112810123_112810124del, NC_000002.11:g.112810124del, NC_000002.11:g.112810124dup, NC_000002.11:g.112810123_112810124dup, NC_000002.11:g.112810122_112810124dup, NC_000002.11:g.112810121_112810124dup, NG_051358.1:g.2323_2325del, NG_051358.1:g.2324_2325del, NG_051358.1:g.2325del, NG_051358.1:g.2325dup, NG_051358.1:g.2324_2325dup, NG_051358.1:g.2323_2325dup, NG_051358.1:g.2322_2325dup

Select item 149104806813.

rs1491048068 has merged into rs61341379 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:112079937 (GRCh38)
2:112837514 (GRCh37)
Canonical SPDI:: NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112079926:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMEM87B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.112079937_112079947del, NC_000002.12:g.112079938_112079947del, NC_000002.12:g.112079942_112079947del, NC_000002.12:g.112079943_112079947del, NC_000002.12:g.112079945_112079947del, NC_000002.12:g.112079946_112079947del, NC_000002.12:g.112079947del, NC_000002.12:g.112079947dup, NC_000002.12:g.112079946_112079947dup, NC_000002.12:g.112079945_112079947dup, NC_000002.12:g.112079944_112079947dup, NC_000002.12:g.112079943_112079947dup, NC_000002.12:g.112079942_112079947dup, NC_000002.12:g.112079941_112079947dup, NC_000002.12:g.112079940_112079947dup, NC_000002.12:g.112079938_112079947dup, NC_000002.12:g.112079932_112079947dup, NC_000002.11:g.112837514_112837524del, NC_000002.11:g.112837515_112837524del, NC_000002.11:g.112837519_112837524del, NC_000002.11:g.112837520_112837524del, NC_000002.11:g.112837522_112837524del, NC_000002.11:g.112837523_112837524del, NC_000002.11:g.112837524del, NC_000002.11:g.112837524dup, NC_000002.11:g.112837523_112837524dup, NC_000002.11:g.112837522_112837524dup, NC_000002.11:g.112837521_112837524dup, NC_000002.11:g.112837520_112837524dup, NC_000002.11:g.112837519_112837524dup, NC_000002.11:g.112837518_112837524dup, NC_000002.11:g.112837517_112837524dup, NC_000002.11:g.112837515_112837524dup, NC_000002.11:g.112837509_112837524dup, NG_051358.1:g.29715_29725del, NG_051358.1:g.29716_29725del, NG_051358.1:g.29720_29725del, NG_051358.1:g.29721_29725del, NG_051358.1:g.29723_29725del, NG_051358.1:g.29724_29725del, NG_051358.1:g.29725del, NG_051358.1:g.29725dup, NG_051358.1:g.29724_29725dup, NG_051358.1:g.29723_29725dup, NG_051358.1:g.29722_29725dup, NG_051358.1:g.29721_29725dup, NG_051358.1:g.29720_29725dup, NG_051358.1:g.29719_29725dup, NG_051358.1:g.29718_29725dup, NG_051358.1:g.29716_29725dup, NG_051358.1:g.29710_29725dup

Select item 149097679614.

rs1490976796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:112098056 (GRCh38)
2:112855633 (GRCh37)
Canonical SPDI:: NC_000002.12:112098055:A:G
Gene:: TMEM87B (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_000002.12:g.112098056A>G, NC_000002.11:g.112855633A>G, NG_051358.1:g.47834A>G

Select item 149089903915.

rs1490899039 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:112059664 (GRCh38)
2:112817241 (GRCh37)
Canonical SPDI:: NC_000002.12:112059663:A:T
Gene:: TMEM87B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.112059664A>T, NC_000002.11:g.112817241A>T, NG_051358.1:g.9442A>T

Select item 149087668916.

rs1490876689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112073716 (GRCh38)
2:112831293 (GRCh37)
Canonical SPDI:: NC_000002.12:112073715:G:A
Gene:: TMEM87B (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_000002.12:g.112073716G>A, NC_000002.11:g.112831293G>A, NG_051358.1:g.23494G>A

Select item 149084112617.

rs1490841126 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:112074898 (GRCh38)
2:112832475 (GRCh37)
Canonical SPDI:: NC_000002.12:112074897:A:G
Gene:: TMEM87B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.112074898A>G, NC_000002.11:g.112832475A>G, NG_051358.1:g.24676A>G

Select item 149080598318.

rs1490805983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112067586 (GRCh38)
2:112825163 (GRCh37)
Canonical SPDI:: NC_000002.12:112067585:G:A
Gene:: TMEM87B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.112067586G>A, NC_000002.11:g.112825163G>A, NG_051358.1:g.17364G>A

Select item 149077601119.

rs1490776011 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:112081364 (GRCh38)
2:112838941 (GRCh37)
Canonical SPDI:: NC_000002.12:112081363:A:G
Gene:: TMEM87B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000002.12:g.112081364A>G, NC_000002.11:g.112838941A>G, NG_051358.1:g.31142A>G, NM_032824.3:c.684A>G, NM_032824.2:c.684A>G, NM_001329914.2:c.684A>G, NM_001329914.1:c.684A>G, XM_005263827.3:c.681A>G, XM_005263827.2:c.681A>G, XM_005263827.1:c.681A>G, XR_923049.2:n.1007A>G, XR_923049.1:n.1010A>G, NP_116213.1:p.Ile228Met, NP_001316843.1:p.Ile228Met, XP_005263884.1:p.Ile227Met

Select item 149076649120.

rs1490766491 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:112119826 (GRCh38)
2:112877403 (GRCh37)
Canonical SPDI:: NC_000002.12:112119825:T:A
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.112119826T>A, NC_000002.11:g.112877403T>A, NG_051358.1:g.69604T>A

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