SNP Links for Gene (Select 57608) - SNP

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Select item 14915017641.

rs1491501764 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:30024713 (GRCh38)
10:30313642 (GRCh37)
Canonical SPDI:: NC_000010.11:30024712:TG:
Gene:: JCAD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000010.11:g.30024713_30024714del, NC_000010.10:g.30313642_30313643del, NG_053080.1:g.95781_95782del

Select item 14915004162.

rs1491500416 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:30082851 (GRCh38)
10:30371780 (GRCh37)
Canonical SPDI:: NC_000010.11:30082850:CA:
Gene:: JCAD (Varview), LOC101929256 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000010.11:g.30082851_30082852del, NC_000010.10:g.30371780_30371781del, NG_053080.1:g.37643_37644del

Select item 14914634793.

rs1491463479 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTA [Show Flanks]
Chromosome:: 10:30084784 (GRCh38)
10:30373714 (GRCh37)
Canonical SPDI:: NC_000010.11:30084784:CTA:CTACCTA
Gene:: JCAD (Varview), LOC101929256 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTACCTA=0.00025/3 (ALFA)
CTAC=0.00027/22 (GnomAD)
HGVS:: NC_000010.11:g.30084787_30084788insCCTA, NC_000010.10:g.30373716_30373717insCCTA, NG_053080.1:g.35710_35711insGTAG

Select item 14914568764.

rs1491456876 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:30061558 (GRCh38)
10:30350488 (GRCh37)
Canonical SPDI:: NC_000010.11:30061558::T
Gene:: JCAD (Varview), LOC101929256 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.00005/7 (GnomAD)
HGVS:: NC_000010.11:g.30061558_30061559insT, NC_000010.10:g.30350487_30350488insT, NG_053080.1:g.58936_58937insA

Select item 14914509045.

rs1491450904 has merged into rs57450219 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:30082862 (GRCh38)
10:30371791 (GRCh37)
Canonical SPDI:: NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30082851:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: JCAD (Varview), LOC101929256 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.30082862_30082877del, NC_000010.11:g.30082863_30082877del, NC_000010.11:g.30082864_30082877del, NC_000010.11:g.30082865_30082877del, NC_000010.11:g.30082866_30082877del, NC_000010.11:g.30082867_30082877del, NC_000010.11:g.30082868_30082877del, NC_000010.11:g.30082869_30082877del, NC_000010.11:g.30082870_30082877del, NC_000010.11:g.30082872_30082877del, NC_000010.11:g.30082873_30082877del, NC_000010.11:g.30082874_30082877del, NC_000010.11:g.30082875_30082877del, NC_000010.11:g.30082876_30082877del, NC_000010.11:g.30082877del, NC_000010.11:g.30082877dup, NC_000010.11:g.30082876_30082877dup, NC_000010.11:g.30082875_30082877dup, NC_000010.11:g.30082874_30082877dup, NC_000010.11:g.30082873_30082877dup, NC_000010.11:g.30082872_30082877dup, NC_000010.11:g.30082870_30082877dup, NC_000010.11:g.30082869_30082877dup, NC_000010.11:g.30082860_30082877dup, NC_000010.11:g.30082852_30082877dup, NC_000010.10:g.30371791_30371806del, NC_000010.10:g.30371792_30371806del, NC_000010.10:g.30371793_30371806del, NC_000010.10:g.30371794_30371806del, NC_000010.10:g.30371795_30371806del, NC_000010.10:g.30371796_30371806del, NC_000010.10:g.30371797_30371806del, NC_000010.10:g.30371798_30371806del, NC_000010.10:g.30371799_30371806del, NC_000010.10:g.30371801_30371806del, NC_000010.10:g.30371802_30371806del, NC_000010.10:g.30371803_30371806del, NC_000010.10:g.30371804_30371806del, NC_000010.10:g.30371805_30371806del, NC_000010.10:g.30371806del, NC_000010.10:g.30371806dup, NC_000010.10:g.30371805_30371806dup, NC_000010.10:g.30371804_30371806dup, NC_000010.10:g.30371803_30371806dup, NC_000010.10:g.30371802_30371806dup, NC_000010.10:g.30371801_30371806dup, NC_000010.10:g.30371799_30371806dup, NC_000010.10:g.30371798_30371806dup, NC_000010.10:g.30371789_30371806dup, NC_000010.10:g.30371781_30371806dup, NG_053080.1:g.37628_37643del, NG_053080.1:g.37629_37643del, NG_053080.1:g.37630_37643del, NG_053080.1:g.37631_37643del, NG_053080.1:g.37632_37643del, NG_053080.1:g.37633_37643del, NG_053080.1:g.37634_37643del, NG_053080.1:g.37635_37643del, NG_053080.1:g.37636_37643del, NG_053080.1:g.37638_37643del, NG_053080.1:g.37639_37643del, NG_053080.1:g.37640_37643del, NG_053080.1:g.37641_37643del, NG_053080.1:g.37642_37643del, NG_053080.1:g.37643del, NG_053080.1:g.37643dup, NG_053080.1:g.37642_37643dup, NG_053080.1:g.37641_37643dup, NG_053080.1:g.37640_37643dup, NG_053080.1:g.37639_37643dup, NG_053080.1:g.37638_37643dup, NG_053080.1:g.37636_37643dup, NG_053080.1:g.37635_37643dup, NG_053080.1:g.37626_37643dup, NG_053080.1:g.37618_37643dup

Select item 14914437826.

rs1491443782 has merged into rs1554802538 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATA,TATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA [Show Flanks]
Chromosome:: 10:30092119 (GRCh38)
10:30381048 (GRCh37)
Canonical SPDI:: NC_000010.11:30092098:TATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000010.11:30092098:TATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000010.11:30092098:TATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000010.11:30092098:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000010.11:30092098:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000010.11:30092098:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000010.11:30092098:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000010.11:30092098:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000010.11:30092098:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000010.11:30092098:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000010.11:30092098:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA
Gene:: JCAD (Varview), LOC101929256 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000010.11:g.30092099TA[10], NC_000010.11:g.30092099TA[11], NC_000010.11:g.30092099TA[12], NC_000010.11:g.30092099TA[13], NC_000010.11:g.30092099TA[15], NC_000010.11:g.30092099TA[16], NC_000010.11:g.30092099TA[17], NC_000010.11:g.30092099TA[18], NC_000010.11:g.30092099TA[19], NC_000010.11:g.30092099TA[20], NC_000010.11:g.30092099TA[21], NC_000010.10:g.30381028TA[10], NC_000010.10:g.30381028TA[11], NC_000010.10:g.30381028TA[12], NC_000010.10:g.30381028TA[13], NC_000010.10:g.30381028TA[15], NC_000010.10:g.30381028TA[16], NC_000010.10:g.30381028TA[17], NC_000010.10:g.30381028TA[18], NC_000010.10:g.30381028TA[19], NC_000010.10:g.30381028TA[20], NC_000010.10:g.30381028TA[21], NG_053080.1:g.28369TA[10], NG_053080.1:g.28369TA[11], NG_053080.1:g.28369TA[12], NG_053080.1:g.28369TA[13], NG_053080.1:g.28369TA[15], NG_053080.1:g.28369TA[16], NG_053080.1:g.28369TA[17], NG_053080.1:g.28369TA[18], NG_053080.1:g.28369TA[19], NG_053080.1:g.28369TA[20], NG_053080.1:g.28369TA[21]

Select item 14914404677.

rs1491440467 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 10:30054762 (GRCh38)
10:30343691 (GRCh37)
Canonical SPDI:: NC_000010.11:30054761:GGGG:GGG,NC_000010.11:30054761:GGGG:GGGGG
Gene:: JCAD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.30054765del, NC_000010.11:g.30054765dup, NC_000010.10:g.30343694del, NC_000010.10:g.30343694dup, NG_053080.1:g.65733del, NG_053080.1:g.65733dup

Select item 14914280468.

rs1491428046 has merged into rs3074824 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGATAGATAGAT>-,AGAT,AGATAGAT,AGATAGATAGATAGAT,AGATAGATAGATAGATAGAT,AGATAGATAGATAGATAGATAGAT,AGATAGATAGATAGATAGATAGATAGAT,AGATAGATAGATAGATAGATAGATAGATAGAT,AGATAGATAGATAGATAGATAGATAGATAGATAGAT,AGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT [Show Flanks]
Chromosome:: 10:30114845 (GRCh38)
10:30403774 (GRCh37)
Canonical SPDI:: NC_000010.11:30114826:ATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGAT,NC_000010.11:30114826:ATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGAT,NC_000010.11:30114826:ATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGAT,NC_000010.11:30114826:ATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGAT,NC_000010.11:30114826:ATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGATAGAT,NC_000010.11:30114826:ATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT,NC_000010.11:30114826:ATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT,NC_000010.11:30114826:ATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT,NC_000010.11:30114826:ATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT,NC_000010.11:30114826:ATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT
Gene:: JCAD (Varview), LOC101929256 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT=0./0 (ALFA)
ATAG=0.1452/331 (1000Genomes)
HGVS:: NC_000010.11:g.30114829AGAT[4], NC_000010.11:g.30114829AGAT[5], NC_000010.11:g.30114829AGAT[6], NC_000010.11:g.30114829AGAT[8], NC_000010.11:g.30114829AGAT[9], NC_000010.11:g.30114829AGAT[10], NC_000010.11:g.30114829AGAT[11], NC_000010.11:g.30114829AGAT[12], NC_000010.11:g.30114829AGAT[13], NC_000010.11:g.30114829AGAT[14], NC_000010.10:g.30403758AGAT[4], NC_000010.10:g.30403758AGAT[5], NC_000010.10:g.30403758AGAT[6], NC_000010.10:g.30403758AGAT[8], NC_000010.10:g.30403758AGAT[9], NC_000010.10:g.30403758AGAT[10], NC_000010.10:g.30403758AGAT[11], NC_000010.10:g.30403758AGAT[12], NC_000010.10:g.30403758AGAT[13], NC_000010.10:g.30403758AGAT[14], NG_053080.1:g.5641CTAT[4], NG_053080.1:g.5641CTAT[5], NG_053080.1:g.5641CTAT[6], NG_053080.1:g.5641CTAT[8], NG_053080.1:g.5641CTAT[9], NG_053080.1:g.5641CTAT[10], NG_053080.1:g.5641CTAT[11], NG_053080.1:g.5641CTAT[12], NG_053080.1:g.5641CTAT[13], NG_053080.1:g.5641CTAT[14]

Select item 14914118339.

rs1491411833 has merged into rs200287202 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 10:30069620 (GRCh38)
10:30358549 (GRCh37)
Canonical SPDI:: NC_000010.11:30069612:AAAAAAAAA:AAAAAAA,NC_000010.11:30069612:AAAAAAAAA:AAAAAAAA,NC_000010.11:30069612:AAAAAAAAA:AAAAAAAAAA,NC_000010.11:30069612:AAAAAAAAA:AAAAAAAAAAA
Gene:: JCAD (Varview), LOC101929256 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.014522/243 (TOMMO)
-=0.018579/34 (Korea1K)
HGVS:: NC_000010.11:g.30069620_30069621del, NC_000010.11:g.30069621del, NC_000010.11:g.30069621dup, NC_000010.11:g.30069620_30069621dup, NC_000010.10:g.30358549_30358550del, NC_000010.10:g.30358550del, NC_000010.10:g.30358550dup, NC_000010.10:g.30358549_30358550dup, NG_053080.1:g.50881_50882del, NG_053080.1:g.50882del, NG_053080.1:g.50882dup, NG_053080.1:g.50881_50882dup

Select item 149140472610.

rs1491404726 has merged into rs71023538 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 10:30020001 (GRCh38)
10:30308930 (GRCh37)
Canonical SPDI:: NC_000010.11:30019989:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:30019989:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:30019989:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:30019989:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:30019989:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:30019989:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:30019989:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: JCAD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000010.11:g.30020001_30020004del, NC_000010.11:g.30020002_30020004del, NC_000010.11:g.30020003_30020004del, NC_000010.11:g.30020004del, NC_000010.11:g.30020004dup, NC_000010.11:g.30020003_30020004dup, NC_000010.11:g.30020002_30020004dup, NC_000010.10:g.30308930_30308933del, NC_000010.10:g.30308931_30308933del, NC_000010.10:g.30308932_30308933del, NC_000010.10:g.30308933del, NC_000010.10:g.30308933dup, NC_000010.10:g.30308932_30308933dup, NC_000010.10:g.30308931_30308933dup, NG_053080.1:g.100502_100505del, NG_053080.1:g.100503_100505del, NG_053080.1:g.100504_100505del, NG_053080.1:g.100505del, NG_053080.1:g.100505dup, NG_053080.1:g.100504_100505dup, NG_053080.1:g.100503_100505dup

Select item 149138690111.

rs1491386901 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA,AAAA,AATACA [Show Flanks]
Chromosome:: 10:30092099 (GRCh38)
10:30381029 (GRCh37)
Canonical SPDI:: NC_000010.11:30092099:A:AAA,NC_000010.11:30092099:A:AAAAA,NC_000010.11:30092099:A:AAATACA
Gene:: JCAD (Varview), LOC101929256 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
AA=0.00264/22 (TOMMO)
AA=0.02344/6 (NorthernSweden)
HGVS:: NC_000010.11:g.30092100_30092101insAA, NC_000010.11:g.30092100_30092101insAAAA, NC_000010.11:g.30092100_30092101insAATACA, NC_000010.10:g.30381029_30381030insAA, NC_000010.10:g.30381029_30381030insAAAA, NC_000010.10:g.30381029_30381030insAATACA, NG_053080.1:g.28395_28396insTT, NG_053080.1:g.28395_28396insTTTT, NG_053080.1:g.28395_28396insGTATTT

Select item 149136449712.

rs1491364497 [Homo sapiens]

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

Select item 149135329713.

rs1491353297 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 10:30063151 (GRCh38)
10:30352081 (GRCh37)
Canonical SPDI:: NC_000010.11:30063151::A,NC_000010.11:30063151::AA
Gene:: JCAD (Varview), LOC101929256 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000010.11:g.30063151_30063152insA, NC_000010.11:g.30063151_30063152insAA, NC_000010.10:g.30352080_30352081insA, NC_000010.10:g.30352080_30352081insAA, NG_053080.1:g.57343_57344insT, NG_053080.1:g.57343_57344insTT, NG_079010.1:g.112_113insA, NG_079010.1:g.112_113insAA

Select item 149134702514.

rs1491347025 [Homo sapiens]

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

Select item 149133574815.

rs1491335748 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:30019357 (GRCh38)
10:30308286 (GRCh37)
Canonical SPDI:: NC_000010.11:30019356:CA:
Gene:: JCAD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/2 (GnomAD)
HGVS:: NC_000010.11:g.30019357_30019358del, NC_000010.10:g.30308286_30308287del, NG_053080.1:g.101137_101138del

Select item 149130635816.

rs1491306358 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:30019373 (GRCh38)
10:30308303 (GRCh37)
Canonical SPDI:: NC_000010.11:30019373::G
Gene:: JCAD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000017/2 (GnomAD)
G=0.00033/6 (TOMMO)
HGVS:: NC_000010.11:g.30019373_30019374insG, NC_000010.10:g.30308302_30308303insG, NG_053080.1:g.101121_101122insC

Select item 149129085117.

rs1491290851 [Homo sapiens]

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

Select item 149129082318.

rs1491290823 has merged into rs35662614 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 10:30069609 (GRCh38)
10:30358538 (GRCh37)
Canonical SPDI:: NC_000010.11:30069601:CCCCCCCCCCC:CCCCCCC,NC_000010.11:30069601:CCCCCCCCCCC:CCCCCCCC,NC_000010.11:30069601:CCCCCCCCCCC:CCCCCCCCC,NC_000010.11:30069601:CCCCCCCCCCC:CCCCCCCCCC,NC_000010.11:30069601:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000010.11:30069601:CCCCCCCCCCC:CCCCCCCCCCCCC
Gene:: JCAD (Varview), LOC101929256 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
-=0.1945/974 (1000Genomes)
-=0.2901/1118 (ALSPAC)
HGVS:: NC_000010.11:g.30069609_30069612del, NC_000010.11:g.30069610_30069612del, NC_000010.11:g.30069611_30069612del, NC_000010.11:g.30069612del, NC_000010.11:g.30069612dup, NC_000010.11:g.30069611_30069612dup, NC_000010.10:g.30358538_30358541del, NC_000010.10:g.30358539_30358541del, NC_000010.10:g.30358540_30358541del, NC_000010.10:g.30358541del, NC_000010.10:g.30358541dup, NC_000010.10:g.30358540_30358541dup, NG_053080.1:g.50890_50893del, NG_053080.1:g.50891_50893del, NG_053080.1:g.50892_50893del, NG_053080.1:g.50893del, NG_053080.1:g.50893dup, NG_053080.1:g.50892_50893dup

Select item 149128411919.

rs1491284119 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAT,TATAT,TATATAT,TATATATAT,TATATATATAT,TATATATATATAT,TATATATATATATAT,TATATATATATATATAT,TATATATATATATATATAT,TATATATATATATATATATAT,TATATATATATATATATATATAT,TATATATATATATATATATATATAT,TATATATATATATATATATATATATAT,TGT [Show Flanks]
Chromosome:: 10:30092126 (GRCh38)
10:30381056 (GRCh37)
Canonical SPDI:: NC_000010.11:30092126::T,NC_000010.11:30092126::TAT,NC_000010.11:30092126::TATAT,NC_000010.11:30092126::TATATAT,NC_000010.11:30092126::TATATATAT,NC_000010.11:30092126::TATATATATAT,NC_000010.11:30092126::TATATATATATAT,NC_000010.11:30092126::TATATATATATATAT,NC_000010.11:30092126::TATATATATATATATAT,NC_000010.11:30092126::TATATATATATATATATAT,NC_000010.11:30092126::TATATATATATATATATATAT,NC_000010.11:30092126::TATATATATATATATATATATAT,NC_000010.11:30092126::TATATATATATATATATATATATAT,NC_000010.11:30092126::TATATATATATATATATATATATATAT,NC_000010.11:30092126::TGT
Gene:: JCAD (Varview), LOC101929256 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
T=0.00169/1 (NorthernSweden)
T=0.00414/7 (Korea1K)
HGVS:: NC_000010.11:g.30092126_30092127insT, NC_000010.11:g.30092126_30092127insTAT, NC_000010.11:g.30092126_30092127insTATAT, NC_000010.11:g.30092126_30092127insTATATAT, NC_000010.11:g.30092126_30092127insTATATATAT, NC_000010.11:g.30092126_30092127insTATATATATAT, NC_000010.11:g.30092126_30092127insTATATATATATAT, NC_000010.11:g.30092126_30092127insTATATATATATATAT, NC_000010.11:g.30092126_30092127insTATATATATATATATAT, NC_000010.11:g.30092126_30092127insTATATATATATATATATAT, NC_000010.11:g.30092126_30092127insTATATATATATATATATATAT, NC_000010.11:g.30092126_30092127insTATATATATATATATATATATAT, NC_000010.11:g.30092126_30092127insTATATATATATATATATATATATAT, NC_000010.11:g.30092126_30092127insTATATATATATATATATATATATATAT, NC_000010.11:g.30092126_30092127insTGT, NC_000010.10:g.30381055_30381056insT, NC_000010.10:g.30381055_30381056insTAT, NC_000010.10:g.30381055_30381056insTATAT, NC_000010.10:g.30381055_30381056insTATATAT, NC_000010.10:g.30381055_30381056insTATATATAT, NC_000010.10:g.30381055_30381056insTATATATATAT, NC_000010.10:g.30381055_30381056insTATATATATATAT, NC_000010.10:g.30381055_30381056insTATATATATATATAT, NC_000010.10:g.30381055_30381056insTATATATATATATATAT, NC_000010.10:g.30381055_30381056insTATATATATATATATATAT, NC_000010.10:g.30381055_30381056insTATATATATATATATATATAT, NC_000010.10:g.30381055_30381056insTATATATATATATATATATATAT, NC_000010.10:g.30381055_30381056insTATATATATATATATATATATATAT, NC_000010.10:g.30381055_30381056insTATATATATATATATATATATATATAT, NC_000010.10:g.30381055_30381056insTGT, NG_053080.1:g.28368_28369insA, NG_053080.1:g.28368_28369insATA, NG_053080.1:g.28368_28369insATATA, NG_053080.1:g.28368_28369insATATATA, NG_053080.1:g.28368_28369insATATATATA, NG_053080.1:g.28368_28369insATATATATATA, NG_053080.1:g.28368_28369insATATATATATATA, NG_053080.1:g.28368_28369insATATATATATATATA, NG_053080.1:g.28368_28369insATATATATATATATATA, NG_053080.1:g.28368_28369insATATATATATATATATATA, NG_053080.1:g.28368_28369insATATATATATATATATATATA, NG_053080.1:g.28368_28369insATATATATATATATATATATATA, NG_053080.1:g.28368_28369insATATATATATATATATATATATATA, NG_053080.1:g.28368_28369insATATATATATATATATATATATATATA, NG_053080.1:g.28368_28369insACA

Select item 149123866120.

rs1491238661 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:30103631 (GRCh38)
10:30392561 (GRCh37)
Canonical SPDI:: NC_000010.11:30103631::A
Gene:: JCAD (Varview), LOC101929256 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002013/9 (ALFA)
A=0.002851/382 (GnomAD)
A=0.006667/4 (NorthernSweden)
HGVS:: NC_000010.11:g.30103631_30103632insA, NC_000010.10:g.30392560_30392561insA, NG_053080.1:g.16863_16864insT

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