SNP Links for Gene (Select 130026) - SNP

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Select item 14915657461.

rs1491565746 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 2:202795019 (GRCh38)
2:203659742 (GRCh37)
Canonical SPDI:: NC_000002.12:202795018:GG:
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000073/10 (GnomAD)
-=0.132416/491 (TWINSUK)
-=0.151531/584 (ALSPAC)
HGVS:: NC_000002.12:g.202795019_202795020del, NC_000002.11:g.203659742_203659743del

Select item 14915380722.

rs1491538072 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTG,TTTTG [Show Flanks]
Chromosome:: 2:202777072 (GRCh38)
2:203641796 (GRCh37)
Canonical SPDI:: NC_000002.12:202777072::TTTG,NC_000002.12:202777072::TTTTG
Gene:: ICA1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTG=0./0 (ALFA)
TTTG=0.00003/3 (GnomAD)
HGVS:: NC_000002.12:g.202777072_202777073insTTTG, NC_000002.12:g.202777072_202777073insTTTTG, NC_000002.11:g.203641795_203641796insTTTG, NC_000002.11:g.203641795_203641796insTTTTG, NM_138468.7:c.*2460_*2461insCAAA, NM_138468.7:c.*2460_*2461insCAAAA, NM_138468.6:c.*2460_*2461insCAAA, NM_138468.6:c.*2460_*2461insCAAAA, NM_138468.5:c.*2460_*2461insCAAA, NM_138468.5:c.*2460_*2461insCAAAA, NM_138468.4:c.*2460_*2461insCAAA, NM_138468.4:c.*2460_*2461insCAAAA, NM_001288622.3:c.*2460_*2461insCAAA, NM_001288622.3:c.*2460_*2461insCAAAA, NM_001288622.2:c.*2460_*2461insCAAA, NM_001288622.2:c.*2460_*2461insCAAAA, NM_001288622.1:c.*2460_*2461insCAAA, NM_001288622.1:c.*2460_*2461insCAAAA, NM_001288623.2:c.*2460_*2461insCAAA, NM_001288623.2:c.*2460_*2461insCAAAA, NM_001288623.1:c.*2460_*2461insCAAA, NM_001288623.1:c.*2460_*2461insCAAAA

Select item 14915314563.

rs1491531456 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:202811659 (GRCh38)
2:203676382 (GRCh37)
Canonical SPDI:: NC_000002.12:202811658:CA:
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.202811659_202811660del, NC_000002.11:g.203676382_203676383del

Select item 14915262664.

rs1491526266 has merged into rs61240847 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:202861412 (GRCh38)
2:203726135 (GRCh37)
Canonical SPDI:: NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.202861412_202861428del, NC_000002.12:g.202861414_202861428del, NC_000002.12:g.202861415_202861428del, NC_000002.12:g.202861416_202861428del, NC_000002.12:g.202861417_202861428del, NC_000002.12:g.202861418_202861428del, NC_000002.12:g.202861419_202861428del, NC_000002.12:g.202861420_202861428del, NC_000002.12:g.202861421_202861428del, NC_000002.12:g.202861422_202861428del, NC_000002.12:g.202861423_202861428del, NC_000002.12:g.202861424_202861428del, NC_000002.12:g.202861425_202861428del, NC_000002.12:g.202861426_202861428del, NC_000002.12:g.202861427_202861428del, NC_000002.12:g.202861428del, NC_000002.12:g.202861428dup, NC_000002.12:g.202861427_202861428dup, NC_000002.12:g.202861426_202861428dup, NC_000002.12:g.202861425_202861428dup, NC_000002.12:g.202861424_202861428dup, NC_000002.12:g.202861421_202861428dup, NC_000002.12:g.202861420_202861428dup, NC_000002.12:g.202861419_202861428dup, NC_000002.12:g.202861412_202861428dup, NC_000002.12:g.202861428_202861429insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.203726135_203726151del, NC_000002.11:g.203726137_203726151del, NC_000002.11:g.203726138_203726151del, NC_000002.11:g.203726139_203726151del, NC_000002.11:g.203726140_203726151del, NC_000002.11:g.203726141_203726151del, NC_000002.11:g.203726142_203726151del, NC_000002.11:g.203726143_203726151del, NC_000002.11:g.203726144_203726151del, NC_000002.11:g.203726145_203726151del, NC_000002.11:g.203726146_203726151del, NC_000002.11:g.203726147_203726151del, NC_000002.11:g.203726148_203726151del, NC_000002.11:g.203726149_203726151del, NC_000002.11:g.203726150_203726151del, NC_000002.11:g.203726151del, NC_000002.11:g.203726151dup, NC_000002.11:g.203726150_203726151dup, NC_000002.11:g.203726149_203726151dup, NC_000002.11:g.203726148_203726151dup, NC_000002.11:g.203726147_203726151dup, NC_000002.11:g.203726144_203726151dup, NC_000002.11:g.203726143_203726151dup, NC_000002.11:g.203726142_203726151dup, NC_000002.11:g.203726135_203726151dup, NC_000002.11:g.203726151_203726152insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915090465.

rs1491509046 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTAT [Show Flanks]
Chromosome:: 2:202779710 (GRCh38)
2:203644434 (GRCh37)
Canonical SPDI:: NC_000002.12:202779710:TATTTAT:TATTTATTTAT
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATTTATTTAT=0./0 (ALFA)
TATT=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.202779714_202779717dup, NC_000002.11:g.203644437_203644440dup

Select item 14914353296.

rs1491435329 has merged into rs57535958 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:202839574 (GRCh38)
2:203704297 (GRCh37)
Canonical SPDI:: NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:202839558:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTG=0./0 (GENOME_DK)
TGTGTGTGTGTGTGTGTGTGTG=0.0393/197 (1000Genomes)
HGVS:: NC_000002.12:g.202839560GT[7], NC_000002.12:g.202839560GT[8], NC_000002.12:g.202839560GT[9], NC_000002.12:g.202839560GT[10], NC_000002.12:g.202839560GT[11], NC_000002.12:g.202839560GT[12], NC_000002.12:g.202839560GT[13], NC_000002.12:g.202839560GT[14], NC_000002.12:g.202839560GT[15], NC_000002.12:g.202839560GT[16], NC_000002.12:g.202839560GT[17], NC_000002.12:g.202839560GT[18], NC_000002.12:g.202839560GT[19], NC_000002.12:g.202839560GT[20], NC_000002.12:g.202839560GT[21], NC_000002.12:g.202839560GT[22], NC_000002.12:g.202839560GT[23], NC_000002.12:g.202839560GT[24], NC_000002.12:g.202839560GT[25], NC_000002.12:g.202839560GT[26], NC_000002.12:g.202839560GT[27], NC_000002.12:g.202839560GT[28], NC_000002.12:g.202839560GT[29], NC_000002.12:g.202839560GT[31], NC_000002.12:g.202839560GT[32], NC_000002.12:g.202839560GT[33], NC_000002.12:g.202839560GT[34], NC_000002.12:g.202839560GT[35], NC_000002.12:g.202839560GT[36], NC_000002.12:g.202839560GT[37], NC_000002.12:g.202839560GT[38], NC_000002.12:g.202839560GT[39], NC_000002.12:g.202839560GT[40], NC_000002.12:g.202839560GT[41], NC_000002.12:g.202839560GT[42], NC_000002.12:g.202839560GT[43], NC_000002.11:g.203704283GT[7], NC_000002.11:g.203704283GT[8], NC_000002.11:g.203704283GT[9], NC_000002.11:g.203704283GT[10], NC_000002.11:g.203704283GT[11], NC_000002.11:g.203704283GT[12], NC_000002.11:g.203704283GT[13], NC_000002.11:g.203704283GT[14], NC_000002.11:g.203704283GT[15], NC_000002.11:g.203704283GT[16], NC_000002.11:g.203704283GT[17], NC_000002.11:g.203704283GT[18], NC_000002.11:g.203704283GT[19], NC_000002.11:g.203704283GT[20], NC_000002.11:g.203704283GT[21], NC_000002.11:g.203704283GT[22], NC_000002.11:g.203704283GT[23], NC_000002.11:g.203704283GT[24], NC_000002.11:g.203704283GT[25], NC_000002.11:g.203704283GT[26], NC_000002.11:g.203704283GT[27], NC_000002.11:g.203704283GT[28], NC_000002.11:g.203704283GT[29], NC_000002.11:g.203704283GT[31], NC_000002.11:g.203704283GT[32], NC_000002.11:g.203704283GT[33], NC_000002.11:g.203704283GT[34], NC_000002.11:g.203704283GT[35], NC_000002.11:g.203704283GT[36], NC_000002.11:g.203704283GT[37], NC_000002.11:g.203704283GT[38], NC_000002.11:g.203704283GT[39], NC_000002.11:g.203704283GT[40], NC_000002.11:g.203704283GT[41], NC_000002.11:g.203704283GT[42], NC_000002.11:g.203704283GT[43]

Select item 14913981267.

rs1491398126 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTA
Chromosome:: no mapping
Canonical SPDI:

Select item 14913445318.

rs1491344531 has merged into rs756609058 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 2:202864659 (GRCh38)
2:203729382 (GRCh37)
Canonical SPDI:: NC_000002.12:202864647:TATATATATATAT:TATATATATAT,NC_000002.12:202864647:TATATATATATAT:TATATATATATATAT,NC_000002.12:202864647:TATATATATATAT:TATATATATATATATAT
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
-=0.000302/80 (TOPMED)
HGVS:: NC_000002.12:g.202864649AT[5], NC_000002.12:g.202864649AT[7], NC_000002.12:g.202864649AT[8], NC_000002.11:g.203729372AT[5], NC_000002.11:g.203729372AT[7], NC_000002.11:g.203729372AT[8]

Select item 14913137399.

rs1491313739 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:202777898 (GRCh38)
2:203642621 (GRCh37)
Canonical SPDI:: NC_000002.12:202777897:TG:
Gene:: ICA1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00228/27 (ALFA)
HGVS:: NC_000002.12:g.202777898_202777899del, NC_000002.11:g.203642621_203642622del, NM_138468.7:c.*1634_*1635del, NM_138468.6:c.*1634_*1635del, NM_138468.5:c.*1634_*1635del, NM_138468.4:c.*1634_*1635del, NM_001288622.3:c.*1634_*1635del, NM_001288622.2:c.*1634_*1635del, NM_001288622.1:c.*1634_*1635del, NM_001288623.2:c.*1634_*1635del, NM_001288623.1:c.*1634_*1635del

Select item 149130514810.

rs1491305148 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:202861401 (GRCh38)
2:203726124 (GRCh37)
Canonical SPDI:: NC_000002.12:202861400:CA:
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.202861401_202861402del, NC_000002.11:g.203726124_203726125del

Select item 149129174811.

rs1491291748 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:202779712 (GRCh38)
2:203644435 (GRCh37)
Canonical SPDI:: NC_000002.12:202779709:ATAT:AT
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
HGVS:: NC_000002.12:g.202779710AT[1], NC_000002.11:g.203644433AT[1]

Select item 149129091212.

rs1491290912 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GG
Chromosome:: no mapping
Canonical SPDI:

Select item 149126184613.

rs1491261846 has merged into rs71030990 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:202803411 (GRCh38)
2:203668134 (GRCh37)
Canonical SPDI:: NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202803400:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.202803411_202803423del, NC_000002.12:g.202803412_202803423del, NC_000002.12:g.202803414_202803423del, NC_000002.12:g.202803415_202803423del, NC_000002.12:g.202803416_202803423del, NC_000002.12:g.202803417_202803423del, NC_000002.12:g.202803418_202803423del, NC_000002.12:g.202803420_202803423del, NC_000002.12:g.202803421_202803423del, NC_000002.12:g.202803422_202803423del, NC_000002.12:g.202803423del, NC_000002.12:g.202803423dup, NC_000002.12:g.202803422_202803423dup, NC_000002.12:g.202803421_202803423dup, NC_000002.12:g.202803420_202803423dup, NC_000002.12:g.202803419_202803423dup, NC_000002.12:g.202803418_202803423dup, NC_000002.12:g.202803417_202803423dup, NC_000002.12:g.202803416_202803423dup, NC_000002.12:g.202803415_202803423dup, NC_000002.12:g.202803413_202803423dup, NC_000002.12:g.202803402_202803423dup, NC_000002.11:g.203668134_203668146del, NC_000002.11:g.203668135_203668146del, NC_000002.11:g.203668137_203668146del, NC_000002.11:g.203668138_203668146del, NC_000002.11:g.203668139_203668146del, NC_000002.11:g.203668140_203668146del, NC_000002.11:g.203668141_203668146del, NC_000002.11:g.203668143_203668146del, NC_000002.11:g.203668144_203668146del, NC_000002.11:g.203668145_203668146del, NC_000002.11:g.203668146del, NC_000002.11:g.203668146dup, NC_000002.11:g.203668145_203668146dup, NC_000002.11:g.203668144_203668146dup, NC_000002.11:g.203668143_203668146dup, NC_000002.11:g.203668142_203668146dup, NC_000002.11:g.203668141_203668146dup, NC_000002.11:g.203668140_203668146dup, NC_000002.11:g.203668139_203668146dup, NC_000002.11:g.203668138_203668146dup, NC_000002.11:g.203668136_203668146dup, NC_000002.11:g.203668125_203668146dup

Select item 149123201014.

rs1491232010 has merged into rs566077817 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:202779660 (GRCh38)
2:203644383 (GRCh37)
Canonical SPDI:: NC_000002.12:202779658:AGA:A
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000712/10 (ALFA)
-=0.000188/20 (ExAC)
-=0.000478/67 (GnomAD)
-=0.000487/129 (TOPMED)
-=0.000799/10 (GoESP)
-=0.001997/10 (1000Genomes)
HGVS:: NC_000002.12:g.202779660_202779661del, NC_000002.11:g.203644383_203644384del

Select item 149119750715.

rs1491197507 has merged into rs56039507 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 2:202828275 (GRCh38)
2:203692998 (GRCh37)
Canonical SPDI:: NC_000002.12:202828263:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:202828263:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:202828263:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:202828263:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:202828263:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:202828263:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:202828263:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAA=0.1637/820 (1000Genomes)
HGVS:: NC_000002.12:g.202828275_202828280del, NC_000002.12:g.202828276_202828280del, NC_000002.12:g.202828277_202828280del, NC_000002.12:g.202828278_202828280del, NC_000002.12:g.202828279_202828280del, NC_000002.12:g.202828280del, NC_000002.12:g.202828280dup, NC_000002.11:g.203692998_203693003del, NC_000002.11:g.203692999_203693003del, NC_000002.11:g.203693000_203693003del, NC_000002.11:g.203693001_203693003del, NC_000002.11:g.203693002_203693003del, NC_000002.11:g.203693003del, NC_000002.11:g.203693003dup

Select item 149119557816.

rs1491195578 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:202828263 (GRCh38)
2:203692986 (GRCh37)
Canonical SPDI:: NC_000002.12:202828262:CA:
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000002.12:g.202828263_202828264del, NC_000002.11:g.203692986_203692987del

Select item 149118529817.

rs1491185298 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:202777072 (GRCh38)
2:203641795 (GRCh37)
Canonical SPDI:: NC_000002.12:202777071:TG:
Gene:: ICA1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.202777072_202777073del, NC_000002.11:g.203641795_203641796del, NM_138468.7:c.*2460_*2461del, NM_138468.6:c.*2460_*2461del, NM_138468.5:c.*2460_*2461del, NM_138468.4:c.*2460_*2461del, NM_001288622.3:c.*2460_*2461del, NM_001288622.2:c.*2460_*2461del, NM_001288622.1:c.*2460_*2461del, NM_001288623.2:c.*2460_*2461del, NM_001288623.1:c.*2460_*2461del

Select item 149117485518.

rs1491174855 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:202803400 (GRCh38)
2:203668123 (GRCh37)
Canonical SPDI:: NC_000002.12:202803399:CA:
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00405/48 (ALFA)
-=0.00821/137 (TOMMO)
HGVS:: NC_000002.12:g.202803400_202803401del, NC_000002.11:g.203668123_203668124del

Select item 149111506619.

rs1491115066 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:202836250 (GRCh38)
2:203700973 (GRCh37)
Canonical SPDI:: NC_000002.12:202836249:CT:
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.202836250_202836251del, NC_000002.11:g.203700973_203700974del

Select item 149109986520.

rs1491099865 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:202861940 (GRCh38)
2:203726664 (GRCh37)
Canonical SPDI:: NC_000002.12:202861940::C
Gene:: ICA1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.202861940_202861941insC, NC_000002.11:g.203726663_203726664insC

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