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Select item 14914875011.

rs1491487501 has merged into rs56371820 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:65004879 (GRCh38)
7:64465257 (GRCh37)
Canonical SPDI:: NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ERV3-1 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.65004879_65004890del, NC_000007.14:g.65004881_65004890del, NC_000007.14:g.65004882_65004890del, NC_000007.14:g.65004883_65004890del, NC_000007.14:g.65004884_65004890del, NC_000007.14:g.65004885_65004890del, NC_000007.14:g.65004886_65004890del, NC_000007.14:g.65004887_65004890del, NC_000007.14:g.65004888_65004890del, NC_000007.14:g.65004889_65004890del, NC_000007.14:g.65004890del, NC_000007.14:g.65004890dup, NC_000007.14:g.65004889_65004890dup, NC_000007.14:g.65004888_65004890dup, NC_000007.14:g.65004887_65004890dup, NC_000007.14:g.65004886_65004890dup, NC_000007.14:g.65004885_65004890dup, NC_000007.14:g.65004884_65004890dup, NC_000007.14:g.65004883_65004890dup, NC_000007.14:g.65004882_65004890dup, NC_000007.14:g.65004881_65004890dup, NC_000007.14:g.65004890_65004891insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.65004890_65004891insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.65004869_65004890T[59]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.65004890_65004891insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.64465257_64465268del, NC_000007.13:g.64465259_64465268del, NC_000007.13:g.64465260_64465268del, NC_000007.13:g.64465261_64465268del, NC_000007.13:g.64465262_64465268del, NC_000007.13:g.64465263_64465268del, NC_000007.13:g.64465264_64465268del, NC_000007.13:g.64465265_64465268del, NC_000007.13:g.64465266_64465268del, NC_000007.13:g.64465267_64465268del, NC_000007.13:g.64465268del, NC_000007.13:g.64465268dup, NC_000007.13:g.64465267_64465268dup, NC_000007.13:g.64465266_64465268dup, NC_000007.13:g.64465265_64465268dup, NC_000007.13:g.64465264_64465268dup, NC_000007.13:g.64465263_64465268dup, NC_000007.13:g.64465262_64465268dup, NC_000007.13:g.64465261_64465268dup, NC_000007.13:g.64465260_64465268dup, NC_000007.13:g.64465259_64465268dup, NC_000007.13:g.64465268_64465269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.64465268_64465269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.64465247_64465268T[59]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.64465268_64465269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_145414.3:n.462_473del, NR_145414.3:n.464_473del, NR_145414.3:n.465_473del, NR_145414.3:n.466_473del, NR_145414.3:n.467_473del, NR_145414.3:n.468_473del, NR_145414.3:n.469_473del, NR_145414.3:n.470_473del, NR_145414.3:n.471_473del, NR_145414.3:n.472_473del, NR_145414.3:n.473del, NR_145414.3:n.473dup, NR_145414.3:n.472_473dup, NR_145414.3:n.471_473dup, NR_145414.3:n.470_473dup, NR_145414.3:n.469_473dup, NR_145414.3:n.468_473dup, NR_145414.3:n.467_473dup, NR_145414.3:n.466_473dup, NR_145414.3:n.465_473dup, NR_145414.3:n.464_473dup, NR_145414.3:n.473_474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.3:n.473_474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.3:n.452_473A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NR_145414.3:n.473_474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.2:n.462_473del, NR_145414.2:n.464_473del, NR_145414.2:n.465_473del, NR_145414.2:n.466_473del, NR_145414.2:n.467_473del, NR_145414.2:n.468_473del, NR_145414.2:n.469_473del, NR_145414.2:n.470_473del, NR_145414.2:n.471_473del, NR_145414.2:n.472_473del, NR_145414.2:n.473del, NR_145414.2:n.473dup, NR_145414.2:n.472_473dup, NR_145414.2:n.471_473dup, NR_145414.2:n.470_473dup, NR_145414.2:n.469_473dup, NR_145414.2:n.468_473dup, NR_145414.2:n.467_473dup, NR_145414.2:n.466_473dup, NR_145414.2:n.465_473dup, NR_145414.2:n.464_473dup, NR_145414.2:n.473_474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.2:n.473_474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.2:n.452_473A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NR_145414.2:n.473_474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.1:n.521_532del, NR_145414.1:n.523_532del, NR_145414.1:n.524_532del, NR_145414.1:n.525_532del, NR_145414.1:n.526_532del, NR_145414.1:n.527_532del, NR_145414.1:n.528_532del, NR_145414.1:n.529_532del, NR_145414.1:n.530_532del, NR_145414.1:n.531_532del, NR_145414.1:n.532del, NR_145414.1:n.532dup, NR_145414.1:n.531_532dup, NR_145414.1:n.530_532dup, NR_145414.1:n.529_532dup, NR_145414.1:n.528_532dup, NR_145414.1:n.527_532dup, NR_145414.1:n.526_532dup, NR_145414.1:n.525_532dup, NR_145414.1:n.524_532dup, NR_145414.1:n.523_532dup, NR_145414.1:n.532_533insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.1:n.532_533insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.1:n.511_532A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NR_145414.1:n.532_533insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914145752.

rs1491414575 [Homo sapiens]

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

Select item 14913720273.

rs1491372027 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:65004868 (GRCh38)
7:64465246 (GRCh37)
Canonical SPDI:: NC_000007.14:65004867:AT:
Gene:: ERV3-1 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.65004868_65004869del, NC_000007.13:g.64465246_64465247del, NR_145414.3:n.473_474del, NR_145414.2:n.473_474del, NR_145414.1:n.532_533del

Select item 14912939564.

rs1491293956 has merged into rs56371820 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:65004879 (GRCh38)
7:64465257 (GRCh37)
Canonical SPDI:: NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:65004868:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ERV3-1 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.65004879_65004890del, NC_000007.14:g.65004881_65004890del, NC_000007.14:g.65004882_65004890del, NC_000007.14:g.65004883_65004890del, NC_000007.14:g.65004884_65004890del, NC_000007.14:g.65004885_65004890del, NC_000007.14:g.65004886_65004890del, NC_000007.14:g.65004887_65004890del, NC_000007.14:g.65004888_65004890del, NC_000007.14:g.65004889_65004890del, NC_000007.14:g.65004890del, NC_000007.14:g.65004890dup, NC_000007.14:g.65004889_65004890dup, NC_000007.14:g.65004888_65004890dup, NC_000007.14:g.65004887_65004890dup, NC_000007.14:g.65004886_65004890dup, NC_000007.14:g.65004885_65004890dup, NC_000007.14:g.65004884_65004890dup, NC_000007.14:g.65004883_65004890dup, NC_000007.14:g.65004882_65004890dup, NC_000007.14:g.65004881_65004890dup, NC_000007.14:g.65004890_65004891insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.65004890_65004891insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.65004869_65004890T[59]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.65004890_65004891insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.64465257_64465268del, NC_000007.13:g.64465259_64465268del, NC_000007.13:g.64465260_64465268del, NC_000007.13:g.64465261_64465268del, NC_000007.13:g.64465262_64465268del, NC_000007.13:g.64465263_64465268del, NC_000007.13:g.64465264_64465268del, NC_000007.13:g.64465265_64465268del, NC_000007.13:g.64465266_64465268del, NC_000007.13:g.64465267_64465268del, NC_000007.13:g.64465268del, NC_000007.13:g.64465268dup, NC_000007.13:g.64465267_64465268dup, NC_000007.13:g.64465266_64465268dup, NC_000007.13:g.64465265_64465268dup, NC_000007.13:g.64465264_64465268dup, NC_000007.13:g.64465263_64465268dup, NC_000007.13:g.64465262_64465268dup, NC_000007.13:g.64465261_64465268dup, NC_000007.13:g.64465260_64465268dup, NC_000007.13:g.64465259_64465268dup, NC_000007.13:g.64465268_64465269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.64465268_64465269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.64465247_64465268T[59]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.64465268_64465269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_145414.3:n.462_473del, NR_145414.3:n.464_473del, NR_145414.3:n.465_473del, NR_145414.3:n.466_473del, NR_145414.3:n.467_473del, NR_145414.3:n.468_473del, NR_145414.3:n.469_473del, NR_145414.3:n.470_473del, NR_145414.3:n.471_473del, NR_145414.3:n.472_473del, NR_145414.3:n.473del, NR_145414.3:n.473dup, NR_145414.3:n.472_473dup, NR_145414.3:n.471_473dup, NR_145414.3:n.470_473dup, NR_145414.3:n.469_473dup, NR_145414.3:n.468_473dup, NR_145414.3:n.467_473dup, NR_145414.3:n.466_473dup, NR_145414.3:n.465_473dup, NR_145414.3:n.464_473dup, NR_145414.3:n.473_474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.3:n.473_474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.3:n.452_473A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NR_145414.3:n.473_474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.2:n.462_473del, NR_145414.2:n.464_473del, NR_145414.2:n.465_473del, NR_145414.2:n.466_473del, NR_145414.2:n.467_473del, NR_145414.2:n.468_473del, NR_145414.2:n.469_473del, NR_145414.2:n.470_473del, NR_145414.2:n.471_473del, NR_145414.2:n.472_473del, NR_145414.2:n.473del, NR_145414.2:n.473dup, NR_145414.2:n.472_473dup, NR_145414.2:n.471_473dup, NR_145414.2:n.470_473dup, NR_145414.2:n.469_473dup, NR_145414.2:n.468_473dup, NR_145414.2:n.467_473dup, NR_145414.2:n.466_473dup, NR_145414.2:n.465_473dup, NR_145414.2:n.464_473dup, NR_145414.2:n.473_474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.2:n.473_474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.2:n.452_473A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NR_145414.2:n.473_474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.1:n.521_532del, NR_145414.1:n.523_532del, NR_145414.1:n.524_532del, NR_145414.1:n.525_532del, NR_145414.1:n.526_532del, NR_145414.1:n.527_532del, NR_145414.1:n.528_532del, NR_145414.1:n.529_532del, NR_145414.1:n.530_532del, NR_145414.1:n.531_532del, NR_145414.1:n.532del, NR_145414.1:n.532dup, NR_145414.1:n.531_532dup, NR_145414.1:n.530_532dup, NR_145414.1:n.529_532dup, NR_145414.1:n.528_532dup, NR_145414.1:n.527_532dup, NR_145414.1:n.526_532dup, NR_145414.1:n.525_532dup, NR_145414.1:n.524_532dup, NR_145414.1:n.523_532dup, NR_145414.1:n.532_533insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.1:n.532_533insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_145414.1:n.511_532A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NR_145414.1:n.532_533insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14907390585.

rs1490739058 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:65003028 (GRCh38)
7:64463407 (GRCh37)
Canonical SPDI:: NC_000007.14:65003028:CCC:CCCC
Gene:: ERV3-1 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.65003031dup, NC_000007.13:g.64463409dup

Select item 14905860036.

rs1490586003 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AAA [Show Flanks]
Chromosome:: 7:65006150 (GRCh38)
7:64466528 (GRCh37)
Canonical SPDI:: NC_000007.14:65006149:AAAAAAA:AAAAAA,NC_000007.14:65006149:AAAAAAA:AAAAAAAAA
Gene:: ERV3-1 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
AA=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.65006156del, NC_000007.14:g.65006155_65006156dup, NC_000007.13:g.64466534del, NC_000007.13:g.64466533_64466534dup, NR_145415.2:n.320del, NR_145415.2:n.319_320dup, NR_145415.1:n.379del, NR_145415.1:n.378_379dup

Select item 14905763147.

rs1490576314 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:65003576 (GRCh38)
7:64463954 (GRCh37)
Canonical SPDI:: NC_000007.14:65003575:T:G
Gene:: ERV3-1 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.65003576T>G, NC_000007.13:g.64463954T>G

Select item 14905487958.

rs1490548795 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:65008054 (GRCh38)
7:64468433 (GRCh37)
Canonical SPDI:: NC_000007.14:65008054:GG:GGG
Gene:: ERV3-1 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGG=0.000054/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.65008056dup, NC_000007.13:g.64468434dup

Select item 14905184319.

rs1490518431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:64990247 (GRCh38)
7:64450625 (GRCh37)
Canonical SPDI:: NC_000007.14:64990246:C:T
Gene:: ERV3-1 (Varview), ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.64990247C>T, NC_000007.13:g.64450625C>T, NM_015852.4:c.-496G>A, NM_015852.3:c.-496G>A

Select item 148984710210.

rs1489847102 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGAT [Show Flanks]
Chromosome:: 7:65005939 (GRCh38)
7:64466318 (GRCh37)
Canonical SPDI:: NC_000007.14:65005939:TTGAT:TTGATTGAT
Gene:: ERV3-1 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGATTGAT=0./0 (ALFA)
TTGA=0.000007/1 (GnomAD)
TTGA=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.65005941_65005944dup, NC_000007.13:g.64466319_64466322dup

Select item 148974046611.

rs1489740466 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148936530512.

rs1489365305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:64991692 (GRCh38)
7:64452070 (GRCh37)
Canonical SPDI:: NC_000007.14:64991691:G:A
Gene:: ERV3-1 (Varview), ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,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_000007.14:g.64991692G>A, NC_000007.13:g.64452070G>A, NM_001007253.4:c.1335C>T, NM_001007253.3:c.1335C>T, NM_001396062.1:c.1335C>T

Select item 148927919013.

rs1489279190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:64991045 (GRCh38)
7:64451423 (GRCh37)
Canonical SPDI:: NC_000007.14:64991044:G:A,NC_000007.14:64991044:G:C
Gene:: ERV3-1 (Varview), ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.64991045G>A, NC_000007.14:g.64991045G>C, NC_000007.13:g.64451423G>A, NC_000007.13:g.64451423G>C, NM_001007253.4:c.*167C>T, NM_001007253.4:c.*167C>G, NM_001007253.3:c.*167C>T, NM_001007253.3:c.*167C>G, NM_001396062.1:c.*167C>T, NM_001396062.1:c.*167C>G

Select item 148927125714.

rs1489271257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:64990645 (GRCh38)
7:64451023 (GRCh37)
Canonical SPDI:: NC_000007.14:64990644:C:T
Gene:: ERV3-1 (Varview), ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,5_prime_UTR_variant,genic_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_000007.14:g.64990645C>T, NC_000007.13:g.64451023C>T, NM_015852.4:c.-894G>A, NM_015852.3:c.-894G>A, NM_001007253.4:c.*567G>A, NM_001007253.3:c.*567G>A, NM_001396062.1:c.*567G>A

Select item 148816562615.

rs1488165626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:64999149 (GRCh38)
7:64459527 (GRCh37)
Canonical SPDI:: NC_000007.14:64999148:T:A
Gene:: ERV3-1 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.64999149T>A, NC_000007.13:g.64459527T>A, NM_001396062.1:c.-417A>T

Select item 148780352016.

rs1487803520 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:65000444 (GRCh38)
7:64460822 (GRCh37)
Canonical SPDI:: NC_000007.14:65000443:T:C
Gene:: ERV3-1 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000038/10 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.65000444T>C, NC_000007.13:g.64460822T>C

Select item 148775129317.

rs1487751293 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:65002754 (GRCh38)
7:64463132 (GRCh37)
Canonical SPDI:: NC_000007.14:65002753:T:A,NC_000007.14:65002753:T:C
Gene:: ERV3-1 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.65002754T>A, NC_000007.14:g.65002754T>C, NC_000007.13:g.64463132T>A, NC_000007.13:g.64463132T>C

Select item 148762414818.

rs1487624148 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:65007164 (GRCh38)
7:64467542 (GRCh37)
Canonical SPDI:: NC_000007.14:65007163:T:C
Gene:: ERV3-1 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.65007164T>C, NC_000007.13:g.64467542T>C

Select item 148751914619.

rs1487519146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:64994331 (GRCh38)
7:64454709 (GRCh37)
Canonical SPDI:: NC_000007.14:64994330:G:A
Gene:: ERV3-1 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.64994331G>A, NC_000007.13:g.64454709G>A

Select item 148743384820.

rs1487433848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:64992717 (GRCh38)
7:64453095 (GRCh37)
Canonical SPDI:: NC_000007.14:64992716:G:A
Gene:: ERV3-1 (Varview), ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,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_000007.14:g.64992717G>A, NC_000007.13:g.64453095G>A, NM_001007253.4:c.310C>T, NM_001007253.3:c.310C>T, NM_001396062.1:c.310C>T

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