SNP Links for Nucleotide (Select 193794862) - SNP

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Select item 14915770681.

rs1491577068 has merged into rs796249167 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:95998111 (GRCh38)
12:96391889 (GRCh37)
Canonical SPDI:: NC_000012.12:95998109:CAC:C
Gene:: HAL (Varview), LOC102723340 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003541/42 (ALFA)
-=0.003289/406 (GnomAD)
HGVS:: NC_000012.12:g.95998111_95998112del, NC_000012.11:g.96391889_96391890del, NG_008180.1:g.3183_3184del, NG_074642.1:g.261_262del, XR_945236.4:n.254_255del, XR_945236.3:n.344_345del, XR_945236.2:n.211_212del, XR_945236.1:n.290_291del

Select item 14914991602.

rs1491499160 has merged into rs35532808 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:95975355 (GRCh38)
12:96369133 (GRCh37)
Canonical SPDI:: NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95975347:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
TTT=0.05/2 (GENOME_DK)
HGVS:: NC_000012.12:g.95975355_95975362del, NC_000012.12:g.95975356_95975362del, NC_000012.12:g.95975357_95975362del, NC_000012.12:g.95975358_95975362del, NC_000012.12:g.95975359_95975362del, NC_000012.12:g.95975360_95975362del, NC_000012.12:g.95975361_95975362del, NC_000012.12:g.95975362del, NC_000012.12:g.95975362dup, NC_000012.12:g.95975361_95975362dup, NC_000012.12:g.95975360_95975362dup, NC_000012.12:g.95975359_95975362dup, NC_000012.12:g.95975358_95975362dup, NC_000012.12:g.95975357_95975362dup, NC_000012.12:g.95975356_95975362dup, NC_000012.12:g.95975354_95975362dup, NC_000012.12:g.95975353_95975362dup, NC_000012.12:g.95975352_95975362dup, NC_000012.12:g.95975351_95975362dup, NC_000012.12:g.95975362_95975363insTTTTTTTTTTTTTTTTT, NC_000012.12:g.95975362_95975363insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.96369133_96369140del, NC_000012.11:g.96369134_96369140del, NC_000012.11:g.96369135_96369140del, NC_000012.11:g.96369136_96369140del, NC_000012.11:g.96369137_96369140del, NC_000012.11:g.96369138_96369140del, NC_000012.11:g.96369139_96369140del, NC_000012.11:g.96369140del, NC_000012.11:g.96369140dup, NC_000012.11:g.96369139_96369140dup, NC_000012.11:g.96369138_96369140dup, NC_000012.11:g.96369137_96369140dup, NC_000012.11:g.96369136_96369140dup, NC_000012.11:g.96369135_96369140dup, NC_000012.11:g.96369134_96369140dup, NC_000012.11:g.96369132_96369140dup, NC_000012.11:g.96369131_96369140dup, NC_000012.11:g.96369130_96369140dup, NC_000012.11:g.96369129_96369140dup, NC_000012.11:g.96369140_96369141insTTTTTTTTTTTTTTTTT, NC_000012.11:g.96369140_96369141insTTTTTTTTTTTTTTTTTTTTTT, NG_008180.1:g.25939_25946del, NG_008180.1:g.25940_25946del, NG_008180.1:g.25941_25946del, NG_008180.1:g.25942_25946del, NG_008180.1:g.25943_25946del, NG_008180.1:g.25944_25946del, NG_008180.1:g.25945_25946del, NG_008180.1:g.25946del, NG_008180.1:g.25946dup, NG_008180.1:g.25945_25946dup, NG_008180.1:g.25944_25946dup, NG_008180.1:g.25943_25946dup, NG_008180.1:g.25942_25946dup, NG_008180.1:g.25941_25946dup, NG_008180.1:g.25940_25946dup, NG_008180.1:g.25938_25946dup, NG_008180.1:g.25937_25946dup, NG_008180.1:g.25936_25946dup, NG_008180.1:g.25935_25946dup, NG_008180.1:g.25946_25947insAAAAAAAAAAAAAAAAA, NG_008180.1:g.25946_25947insAAAAAAAAAAAAAAAAAAAAAA

Select item 14914284583.

rs1491428458 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 12:95975348 (GRCh38)
12:96369127 (GRCh37)
Canonical SPDI:: NC_000012.12:95975348:TT:TTCTT
Gene:: HAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0.00007/1 (ALFA)
TTC=0.00009/6 (GnomAD)
HGVS:: NC_000012.12:g.95975350_95975351insCTT, NC_000012.11:g.96369128_96369129insCTT, NG_008180.1:g.25945_25946insGAA

Select item 14913856784.

rs1491385678 has merged into rs63564162 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 12:95998119 (GRCh38)
12:96391897 (GRCh37)
Canonical SPDI:: NC_000012.12:95998111:CCCCCCCCC:CCCCCCC,NC_000012.12:95998111:CCCCCCCCC:CCCCCCCC,NC_000012.12:95998111:CCCCCCCCC:CCCCCCCCCC,NC_000012.12:95998111:CCCCCCCCC:CCCCCCCCCCC,NC_000012.12:95998111:CCCCCCCCC:CCCCCCCCCCCC,NC_000012.12:95998111:CCCCCCCCC:CCCCCCCCCCCCC
Gene:: HAL (Varview), LOC102723340 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
-=0.021436/5674 (TOPMED)
HGVS:: NC_000012.12:g.95998119_95998120del, NC_000012.12:g.95998120del, NC_000012.12:g.95998120dup, NC_000012.12:g.95998119_95998120dup, NC_000012.12:g.95998118_95998120dup, NC_000012.12:g.95998117_95998120dup, NC_000012.11:g.96391897_96391898del, NC_000012.11:g.96391898del, NC_000012.11:g.96391898dup, NC_000012.11:g.96391897_96391898dup, NC_000012.11:g.96391896_96391898dup, NC_000012.11:g.96391895_96391898dup, NG_008180.1:g.3181_3182del, NG_008180.1:g.3182del, NG_008180.1:g.3182dup, NG_008180.1:g.3181_3182dup, NG_008180.1:g.3180_3182dup, NG_008180.1:g.3179_3182dup, NG_074642.1:g.269_270del, NG_074642.1:g.270del, NG_074642.1:g.270dup, NG_074642.1:g.269_270dup, NG_074642.1:g.268_270dup, NG_074642.1:g.267_270dup, XR_945236.4:n.262_263del, XR_945236.4:n.263del, XR_945236.4:n.263dup, XR_945236.4:n.262_263dup, XR_945236.4:n.261_263dup, XR_945236.4:n.260_263dup, XR_945236.3:n.352_353del, XR_945236.3:n.353del, XR_945236.3:n.353dup, XR_945236.3:n.352_353dup, XR_945236.3:n.351_353dup, XR_945236.3:n.350_353dup, XR_945236.2:n.219_220del, XR_945236.2:n.220del, XR_945236.2:n.220dup, XR_945236.2:n.219_220dup, XR_945236.2:n.218_220dup, XR_945236.2:n.217_220dup, XR_945236.1:n.298_299del, XR_945236.1:n.299del, XR_945236.1:n.299dup, XR_945236.1:n.298_299dup, XR_945236.1:n.297_299dup, XR_945236.1:n.296_299dup

Select item 14913012855.

rs1491301285 has merged into rs63564162 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 12:95998119 (GRCh38)
12:96391897 (GRCh37)
Canonical SPDI:: NC_000012.12:95998111:CCCCCCCCC:CCCCCCC,NC_000012.12:95998111:CCCCCCCCC:CCCCCCCC,NC_000012.12:95998111:CCCCCCCCC:CCCCCCCCCC,NC_000012.12:95998111:CCCCCCCCC:CCCCCCCCCCC,NC_000012.12:95998111:CCCCCCCCC:CCCCCCCCCCCC,NC_000012.12:95998111:CCCCCCCCC:CCCCCCCCCCCCC
Gene:: HAL (Varview), LOC102723340 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
-=0.021436/5674 (TOPMED)
HGVS:: NC_000012.12:g.95998119_95998120del, NC_000012.12:g.95998120del, NC_000012.12:g.95998120dup, NC_000012.12:g.95998119_95998120dup, NC_000012.12:g.95998118_95998120dup, NC_000012.12:g.95998117_95998120dup, NC_000012.11:g.96391897_96391898del, NC_000012.11:g.96391898del, NC_000012.11:g.96391898dup, NC_000012.11:g.96391897_96391898dup, NC_000012.11:g.96391896_96391898dup, NC_000012.11:g.96391895_96391898dup, NG_008180.1:g.3181_3182del, NG_008180.1:g.3182del, NG_008180.1:g.3182dup, NG_008180.1:g.3181_3182dup, NG_008180.1:g.3180_3182dup, NG_008180.1:g.3179_3182dup, NG_074642.1:g.269_270del, NG_074642.1:g.270del, NG_074642.1:g.270dup, NG_074642.1:g.269_270dup, NG_074642.1:g.268_270dup, NG_074642.1:g.267_270dup, XR_945236.4:n.262_263del, XR_945236.4:n.263del, XR_945236.4:n.263dup, XR_945236.4:n.262_263dup, XR_945236.4:n.261_263dup, XR_945236.4:n.260_263dup, XR_945236.3:n.352_353del, XR_945236.3:n.353del, XR_945236.3:n.353dup, XR_945236.3:n.352_353dup, XR_945236.3:n.351_353dup, XR_945236.3:n.350_353dup, XR_945236.2:n.219_220del, XR_945236.2:n.220del, XR_945236.2:n.220dup, XR_945236.2:n.219_220dup, XR_945236.2:n.218_220dup, XR_945236.2:n.217_220dup, XR_945236.1:n.298_299del, XR_945236.1:n.299del, XR_945236.1:n.299dup, XR_945236.1:n.298_299dup, XR_945236.1:n.297_299dup, XR_945236.1:n.296_299dup

Select item 14912572956.

rs1491257295 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:95985624 (GRCh38)
12:96379402 (GRCh37)
Canonical SPDI:: NC_000012.12:95985623:CA:
Gene:: HAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00185/22 (ALFA)
HGVS:: NC_000012.12:g.95985624_95985625del, NC_000012.11:g.96379402_96379403del, NG_008180.1:g.15669_15670del

Select item 14912479167.

rs1491247916 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:95998110 (GRCh38)
12:96391889 (GRCh37)
Canonical SPDI:: NC_000012.12:95998110:A:AA
Gene:: HAL (Varview), LOC102723340 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000057/15 (TOPMED)
A=0.000072/9 (GnomAD)
HGVS:: NC_000012.12:g.95998111dup, NC_000012.11:g.96391889dup, NG_008180.1:g.3183dup, NG_074642.1:g.261dup, XR_945236.4:n.254dup, XR_945236.3:n.344dup, XR_945236.2:n.211dup, XR_945236.1:n.290dup

Select item 14912182058.

rs1491218205 has merged into rs34149011 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:95971759 (GRCh38)
12:96365537 (GRCh37)
Canonical SPDI:: NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95971750:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.3754/1880 (1000Genomes)
HGVS:: NC_000012.12:g.95971759_95971770del, NC_000012.12:g.95971761_95971770del, NC_000012.12:g.95971762_95971770del, NC_000012.12:g.95971763_95971770del, NC_000012.12:g.95971764_95971770del, NC_000012.12:g.95971765_95971770del, NC_000012.12:g.95971766_95971770del, NC_000012.12:g.95971767_95971770del, NC_000012.12:g.95971768_95971770del, NC_000012.12:g.95971769_95971770del, NC_000012.12:g.95971770del, NC_000012.12:g.95971770dup, NC_000012.12:g.95971769_95971770dup, NC_000012.12:g.95971768_95971770dup, NC_000012.12:g.95971767_95971770dup, NC_000012.12:g.95971766_95971770dup, NC_000012.12:g.95971765_95971770dup, NC_000012.12:g.95971764_95971770dup, NC_000012.12:g.95971763_95971770dup, NC_000012.12:g.95971757_95971770dup, NC_000012.12:g.95971770_95971771insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.96365537_96365548del, NC_000012.11:g.96365539_96365548del, NC_000012.11:g.96365540_96365548del, NC_000012.11:g.96365541_96365548del, NC_000012.11:g.96365542_96365548del, NC_000012.11:g.96365543_96365548del, NC_000012.11:g.96365544_96365548del, NC_000012.11:g.96365545_96365548del, NC_000012.11:g.96365546_96365548del, NC_000012.11:g.96365547_96365548del, NC_000012.11:g.96365548del, NC_000012.11:g.96365548dup, NC_000012.11:g.96365547_96365548dup, NC_000012.11:g.96365546_96365548dup, NC_000012.11:g.96365545_96365548dup, NC_000012.11:g.96365544_96365548dup, NC_000012.11:g.96365543_96365548dup, NC_000012.11:g.96365542_96365548dup, NC_000012.11:g.96365541_96365548dup, NC_000012.11:g.96365535_96365548dup, NC_000012.11:g.96365548_96365549insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008180.1:g.29532_29543del, NG_008180.1:g.29534_29543del, NG_008180.1:g.29535_29543del, NG_008180.1:g.29536_29543del, NG_008180.1:g.29537_29543del, NG_008180.1:g.29538_29543del, NG_008180.1:g.29539_29543del, NG_008180.1:g.29540_29543del, NG_008180.1:g.29541_29543del, NG_008180.1:g.29542_29543del, NG_008180.1:g.29543del, NG_008180.1:g.29543dup, NG_008180.1:g.29542_29543dup, NG_008180.1:g.29541_29543dup, NG_008180.1:g.29540_29543dup, NG_008180.1:g.29539_29543dup, NG_008180.1:g.29538_29543dup, NG_008180.1:g.29537_29543dup, NG_008180.1:g.29536_29543dup, NG_008180.1:g.29530_29543dup, NG_008180.1:g.29543_29544insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911981729.

rs1491198172 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:95985897 (GRCh38)
12:96379675 (GRCh37)
Canonical SPDI:: NC_000012.12:95985895:TCT:T
Gene:: HAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000019/2 (ExAC)
HGVS:: NC_000012.12:g.95985897_95985898del, NC_000012.11:g.96379675_96379676del, NG_008180.1:g.15397_15398del

Select item 149113798510.

rs1491137985 has merged into rs60410496 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:95977644 (GRCh38)
12:96371422 (GRCh37)
Canonical SPDI:: NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:A,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95977642:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.3754/1880 (1000Genomes)
HGVS:: NC_000012.12:g.95977644_95977661del, NC_000012.12:g.95977650_95977661del, NC_000012.12:g.95977651_95977661del, NC_000012.12:g.95977652_95977661del, NC_000012.12:g.95977654_95977661del, NC_000012.12:g.95977655_95977661del, NC_000012.12:g.95977656_95977661del, NC_000012.12:g.95977657_95977661del, NC_000012.12:g.95977658_95977661del, NC_000012.12:g.95977659_95977661del, NC_000012.12:g.95977660_95977661del, NC_000012.12:g.95977661del, NC_000012.12:g.95977661dup, NC_000012.12:g.95977660_95977661dup, NC_000012.12:g.95977659_95977661dup, NC_000012.12:g.95977658_95977661dup, NC_000012.12:g.95977657_95977661dup, NC_000012.12:g.95977656_95977661dup, NC_000012.12:g.95977655_95977661dup, NC_000012.12:g.95977654_95977661dup, NC_000012.12:g.95977653_95977661dup, NC_000012.12:g.95977661_95977662insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.96371422_96371439del, NC_000012.11:g.96371428_96371439del, NC_000012.11:g.96371429_96371439del, NC_000012.11:g.96371430_96371439del, NC_000012.11:g.96371432_96371439del, NC_000012.11:g.96371433_96371439del, NC_000012.11:g.96371434_96371439del, NC_000012.11:g.96371435_96371439del, NC_000012.11:g.96371436_96371439del, NC_000012.11:g.96371437_96371439del, NC_000012.11:g.96371438_96371439del, NC_000012.11:g.96371439del, NC_000012.11:g.96371439dup, NC_000012.11:g.96371438_96371439dup, NC_000012.11:g.96371437_96371439dup, NC_000012.11:g.96371436_96371439dup, NC_000012.11:g.96371435_96371439dup, NC_000012.11:g.96371434_96371439dup, NC_000012.11:g.96371433_96371439dup, NC_000012.11:g.96371432_96371439dup, NC_000012.11:g.96371431_96371439dup, NC_000012.11:g.96371439_96371440insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008180.1:g.23634_23651del, NG_008180.1:g.23640_23651del, NG_008180.1:g.23641_23651del, NG_008180.1:g.23642_23651del, NG_008180.1:g.23644_23651del, NG_008180.1:g.23645_23651del, NG_008180.1:g.23646_23651del, NG_008180.1:g.23647_23651del, NG_008180.1:g.23648_23651del, NG_008180.1:g.23649_23651del, NG_008180.1:g.23650_23651del, NG_008180.1:g.23651del, NG_008180.1:g.23651dup, NG_008180.1:g.23650_23651dup, NG_008180.1:g.23649_23651dup, NG_008180.1:g.23648_23651dup, NG_008180.1:g.23647_23651dup, NG_008180.1:g.23646_23651dup, NG_008180.1:g.23645_23651dup, NG_008180.1:g.23644_23651dup, NG_008180.1:g.23643_23651dup, NG_008180.1:g.23651_23652insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149112101011.

rs1491121010 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:95971750 (GRCh38)
12:96365528 (GRCh37)
Canonical SPDI:: NC_000012.12:95971749:CA:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.95971750_95971751del, NC_000012.11:g.96365528_96365529del, NG_008180.1:g.29543_29544del

Select item 149099711112.

rs1490997111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95991631 (GRCh38)
12:96385409 (GRCh37)
Canonical SPDI:: NC_000012.12:95991630:A:G
Gene:: HAL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.95991631A>G, NC_000012.11:g.96385409A>G, NG_008180.1:g.9663T>C

Select item 149097741613.

rs1490977416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:95976743 (GRCh38)
12:96370521 (GRCh37)
Canonical SPDI:: NC_000012.12:95976742:G:A
Gene:: HAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95976743G>A, NC_000012.11:g.96370521G>A, NG_008180.1:g.24551C>T

Select item 149092536314.

rs1490925363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:95992840 (GRCh38)
12:96386618 (GRCh37)
Canonical SPDI:: NC_000012.12:95992839:G:T
Gene:: HAL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.95992840G>T, NC_000012.11:g.96386618G>T, NG_008180.1:g.8454C>A

Select item 149090745815.

rs1490907458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:95993604 (GRCh38)
12:96387382 (GRCh37)
Canonical SPDI:: NC_000012.12:95993603:G:A
Gene:: HAL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000012.12:g.95993604G>A, NC_000012.11:g.96387382G>A, NG_008180.1:g.7690C>T

Select item 149087674616.

rs1490876746 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95988263 (GRCh38)
12:96382041 (GRCh37)
Canonical SPDI:: NC_000012.12:95988262:A:G
Gene:: HAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95988263A>G, NC_000012.11:g.96382041A>G, NG_008180.1:g.13031T>C

Select item 149072364917.

rs1490723649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:95983451 (GRCh38)
12:96377229 (GRCh37)
Canonical SPDI:: NC_000012.12:95983450:T:C,NC_000012.12:95983450:T:G
Gene:: HAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95983451T>C, NC_000012.12:g.95983451T>G, NC_000012.11:g.96377229T>C, NC_000012.11:g.96377229T>G, NG_008180.1:g.17843A>G, NG_008180.1:g.17843A>C

Select item 149070016118.

rs1490700161 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:95999697 (GRCh38)
12:96393476 (GRCh37)
Canonical SPDI:: NC_000012.12:95999697:T:TT
Gene:: LOC102723340 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.95999698dup, NC_000012.11:g.96393476dup, NG_008180.1:g.1596dup

Select item 149069291419.

rs1490692914 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:95984736 (GRCh38)
12:96378514 (GRCh37)
Canonical SPDI:: NC_000012.12:95984735:CC:C
Gene:: HAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95984737del, NC_000012.11:g.96378515del, NG_008180.1:g.16558del

Select item 149045881220.

rs1490458812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:95992314 (GRCh38)
12:96386092 (GRCh37)
Canonical SPDI:: NC_000012.12:95992313:C:A,NC_000012.12:95992313:C:G
Gene:: HAL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,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_000012.12:g.95992314C>A, NC_000012.12:g.95992314C>G, NC_000012.11:g.96386092C>A, NC_000012.11:g.96386092C>G, NG_008180.1:g.8980G>T, NG_008180.1:g.8980G>C

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