SNP Links for Gene (Select 55762) - SNP

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Select item 14915590541.

rs1491559054 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 19:52608343 (GRCh38)
19:53111596 (GRCh37)
Canonical SPDI:: NC_000019.10:52608340:AAAA:AA,NC_000019.10:52608340:AAAA:AAA,NC_000019.10:52608340:AAAA:AAAAA
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.52608343_52608344del, NC_000019.10:g.52608344del, NC_000019.10:g.52608344dup, NC_000019.9:g.53111596_53111597del, NC_000019.9:g.53111597del, NC_000019.9:g.53111597dup

Select item 14915357402.

rs1491535740 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:52570349 (GRCh38)
19:53073603 (GRCh37)
Canonical SPDI:: NC_000019.10:52570349::A
Gene:: ZNF701 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000072/19 (TOPMED)
A=0.000177/3 (TOMMO)
HGVS:: NC_000019.10:g.52570349_52570350insA, NC_000019.9:g.53073602_53073603insA

Select item 14915176333.

rs1491517633 has merged into rs71183818 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 19:52608315 (GRCh38)
19:53111568 (GRCh37)
Canonical SPDI:: NC_000019.10:52608313:AAAAAA:A,NC_000019.10:52608313:AAAAAA:AAA,NC_000019.10:52608313:AAAAAA:AAAA,NC_000019.10:52608313:AAAAAA:AAAAA,NC_000019.10:52608313:AAAAAA:AAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00146/41 (TOMMO)
-=0.00351/3 (Korea1K)
HGVS:: NC_000019.10:g.52608315_52608319del, NC_000019.10:g.52608317_52608319del, NC_000019.10:g.52608318_52608319del, NC_000019.10:g.52608319del, NC_000019.10:g.52608319dup, NC_000019.9:g.53111568_53111572del, NC_000019.9:g.53111570_53111572del, NC_000019.9:g.53111571_53111572del, NC_000019.9:g.53111572del, NC_000019.9:g.53111572dup

Select item 14914640824.

rs1491464082 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 19:52621502 (GRCh38)
19:53124755 (GRCh37)
Canonical SPDI:: NC_000019.10:52621501:AC:
Gene:: ZNF83 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01544/69 (ALFA)
-=0.01267/358 (TOMMO)
HGVS:: NC_000019.10:g.52621502_52621503del, NC_000019.9:g.53124755_53124756del, NG_052996.1:g.74079_74080del

Select item 14914163245.

rs1491416324 has merged into rs3837922 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAG [Show Flanks]
Chromosome:: 19:52571247 (GRCh38)
19:53074500 (GRCh37)
Canonical SPDI:: NC_000019.10:52571233:GAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAG,NC_000019.10:52571233:GAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAG,NC_000019.10:52571233:GAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAG,NC_000019.10:52571233:GAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAG,NC_000019.10:52571233:GAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:52571233:GAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:52571233:GAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:52571233:GAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:52571233:GAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
Gene:: ZNF701 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAGAG=0./0 (ALFA)
-=0.011289/2988 (TOPMED)
GA=0.2/8 (GENOME_DK)
GA=0.248333/149 (NorthernSweden)
HGVS:: NC_000019.10:g.52571235AG[6], NC_000019.10:g.52571235AG[7], NC_000019.10:g.52571235AG[8], NC_000019.10:g.52571235AG[9], NC_000019.10:g.52571235AG[11], NC_000019.10:g.52571235AG[12], NC_000019.10:g.52571235AG[13], NC_000019.10:g.52571235AG[14], NC_000019.10:g.52571235AG[16], NC_000019.9:g.53074488AG[6], NC_000019.9:g.53074488AG[7], NC_000019.9:g.53074488AG[8], NC_000019.9:g.53074488AG[9], NC_000019.9:g.53074488AG[11], NC_000019.9:g.53074488AG[12], NC_000019.9:g.53074488AG[13], NC_000019.9:g.53074488AG[14], NC_000019.9:g.53074488AG[16]

Select item 14913545446.

rs1491354544 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAATATATA,AAATATATATGTAATATATA,ATATATA [Show Flanks]
Chromosome:: 19:52608362 (GRCh38)
19:53111616 (GRCh37)
Canonical SPDI:: NC_000019.10:52608362:TATATA:TATATAAAATATATA,NC_000019.10:52608362:TATATA:TATATAAAATATATATGTAATATATA,NC_000019.10:52608362:TATATA:TATATAATATATA
Validated:: by frequency,by alfa
MAF:: TATATAATATATA=0./0 (ALFA)
TATATAAAATATATATGTAA=0.00001/1 (GnomAD)
HGVS:: NC_000019.10:g.52608363_52608368TA[3]AAATATATA[1], NC_000019.10:g.52608363_52608368TA[3]AAATATATATGTAATATATA[1], NC_000019.10:g.52608363_52608368TA[3]AT[3]A[1], NC_000019.9:g.53111616_53111621TA[3]AAATATATA[1], NC_000019.9:g.53111616_53111621TA[3]AAATATATATGTAATATATA[1], NC_000019.9:g.53111616_53111621TA[3]AT[3]A[1]

Select item 14912952857.

rs1491295285 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGTGT [Show Flanks]
Chromosome:: 19:52621502 (GRCh38)
19:53124756 (GRCh37)
Canonical SPDI:: NC_000019.10:52621502::GGTGT
Gene:: ZNF83 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.52621502_52621503insGGTGT, NC_000019.9:g.53124755_53124756insGGTGT, NG_052996.1:g.74079_74080insACACC

Select item 14912836948.

rs1491283694 has merged into rs67941747 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:52602743 (GRCh38)
19:53105996 (GRCh37)
Canonical SPDI:: NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52602733:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000019.10:g.52602743_52602756del, NC_000019.10:g.52602744_52602756del, NC_000019.10:g.52602746_52602756del, NC_000019.10:g.52602747_52602756del, NC_000019.10:g.52602748_52602756del, NC_000019.10:g.52602749_52602756del, NC_000019.10:g.52602750_52602756del, NC_000019.10:g.52602751_52602756del, NC_000019.10:g.52602752_52602756del, NC_000019.10:g.52602753_52602756del, NC_000019.10:g.52602754_52602756del, NC_000019.10:g.52602755_52602756del, NC_000019.10:g.52602756del, NC_000019.10:g.52602756dup, NC_000019.10:g.52602755_52602756dup, NC_000019.10:g.52602754_52602756dup, NC_000019.10:g.52602753_52602756dup, NC_000019.10:g.52602752_52602756dup, NC_000019.10:g.52602751_52602756dup, NC_000019.10:g.52602750_52602756dup, NC_000019.10:g.52602749_52602756dup, NC_000019.10:g.52602748_52602756dup, NC_000019.10:g.52602747_52602756dup, NC_000019.10:g.52602746_52602756dup, NC_000019.10:g.52602745_52602756dup, NC_000019.10:g.52602744_52602756dup, NC_000019.10:g.52602743_52602756dup, NC_000019.10:g.52602742_52602756dup, NC_000019.10:g.52602741_52602756dup, NC_000019.10:g.52602740_52602756dup, NC_000019.10:g.52602739_52602756dup, NC_000019.10:g.52602738_52602756dup, NC_000019.10:g.52602737_52602756dup, NC_000019.10:g.52602736_52602756dup, NC_000019.10:g.52602734_52602756dup, NC_000019.10:g.52602756_52602757insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.52602756_52602757insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.52602756_52602757insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.53105996_53106009del, NC_000019.9:g.53105997_53106009del, NC_000019.9:g.53105999_53106009del, NC_000019.9:g.53106000_53106009del, NC_000019.9:g.53106001_53106009del, NC_000019.9:g.53106002_53106009del, NC_000019.9:g.53106003_53106009del, NC_000019.9:g.53106004_53106009del, NC_000019.9:g.53106005_53106009del, NC_000019.9:g.53106006_53106009del, NC_000019.9:g.53106007_53106009del, NC_000019.9:g.53106008_53106009del, NC_000019.9:g.53106009del, NC_000019.9:g.53106009dup, NC_000019.9:g.53106008_53106009dup, NC_000019.9:g.53106007_53106009dup, NC_000019.9:g.53106006_53106009dup, NC_000019.9:g.53106005_53106009dup, NC_000019.9:g.53106004_53106009dup, NC_000019.9:g.53106003_53106009dup, NC_000019.9:g.53106002_53106009dup, NC_000019.9:g.53106001_53106009dup, NC_000019.9:g.53106000_53106009dup, NC_000019.9:g.53105999_53106009dup, NC_000019.9:g.53105998_53106009dup, NC_000019.9:g.53105997_53106009dup, NC_000019.9:g.53105996_53106009dup, NC_000019.9:g.53105995_53106009dup, NC_000019.9:g.53105994_53106009dup, NC_000019.9:g.53105993_53106009dup, NC_000019.9:g.53105992_53106009dup, NC_000019.9:g.53105991_53106009dup, NC_000019.9:g.53105990_53106009dup, NC_000019.9:g.53105989_53106009dup, NC_000019.9:g.53105987_53106009dup, NC_000019.9:g.53106009_53106010insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.53106009_53106010insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.53106009_53106010insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912479429.

rs1491247942 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:52609753 (GRCh38)
19:53113006 (GRCh37)
Canonical SPDI:: NC_000019.10:52609752:GT:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.52609753_52609754del, NC_000019.9:g.53113006_53113007del

Select item 149121247910.

rs1491212479 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 19:52608362 (GRCh38)
19:53111615 (GRCh37)
Canonical SPDI:: NC_000019.10:52608361:TT:
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.52608362_52608363del, NC_000019.9:g.53111615_53111616del

Select item 149114849611.

rs1491148496 [Homo sapiens]

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

Select item 149111306612.

rs1491113066 has merged into rs71183816 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:52606347 (GRCh38)
19:53109600 (GRCh37)
Canonical SPDI:: NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52606335:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAA=0.007/4 (NorthernSweden)
HGVS:: NC_000019.10:g.52606347_52606372del, NC_000019.10:g.52606348_52606372del, NC_000019.10:g.52606349_52606372del, NC_000019.10:g.52606350_52606372del, NC_000019.10:g.52606351_52606372del, NC_000019.10:g.52606352_52606372del, NC_000019.10:g.52606353_52606372del, NC_000019.10:g.52606354_52606372del, NC_000019.10:g.52606355_52606372del, NC_000019.10:g.52606356_52606372del, NC_000019.10:g.52606357_52606372del, NC_000019.10:g.52606358_52606372del, NC_000019.10:g.52606359_52606372del, NC_000019.10:g.52606360_52606372del, NC_000019.10:g.52606361_52606372del, NC_000019.10:g.52606362_52606372del, NC_000019.10:g.52606363_52606372del, NC_000019.10:g.52606364_52606372del, NC_000019.10:g.52606365_52606372del, NC_000019.10:g.52606366_52606372del, NC_000019.10:g.52606367_52606372del, NC_000019.10:g.52606368_52606372del, NC_000019.10:g.52606369_52606372del, NC_000019.10:g.52606370_52606372del, NC_000019.10:g.52606371_52606372del, NC_000019.10:g.52606372del, NC_000019.10:g.52606372dup, NC_000019.10:g.52606371_52606372dup, NC_000019.10:g.52606370_52606372dup, NC_000019.10:g.52606369_52606372dup, NC_000019.10:g.52606367_52606372dup, NC_000019.10:g.52606366_52606372dup, NC_000019.10:g.52606365_52606372dup, NC_000019.10:g.52606364_52606372dup, NC_000019.10:g.52606362_52606372dup, NC_000019.10:g.52606361_52606372dup, NC_000019.10:g.52606360_52606372dup, NC_000019.9:g.53109600_53109625del, NC_000019.9:g.53109601_53109625del, NC_000019.9:g.53109602_53109625del, NC_000019.9:g.53109603_53109625del, NC_000019.9:g.53109604_53109625del, NC_000019.9:g.53109605_53109625del, NC_000019.9:g.53109606_53109625del, NC_000019.9:g.53109607_53109625del, NC_000019.9:g.53109608_53109625del, NC_000019.9:g.53109609_53109625del, NC_000019.9:g.53109610_53109625del, NC_000019.9:g.53109611_53109625del, NC_000019.9:g.53109612_53109625del, NC_000019.9:g.53109613_53109625del, NC_000019.9:g.53109614_53109625del, NC_000019.9:g.53109615_53109625del, NC_000019.9:g.53109616_53109625del, NC_000019.9:g.53109617_53109625del, NC_000019.9:g.53109618_53109625del, NC_000019.9:g.53109619_53109625del, NC_000019.9:g.53109620_53109625del, NC_000019.9:g.53109621_53109625del, NC_000019.9:g.53109622_53109625del, NC_000019.9:g.53109623_53109625del, NC_000019.9:g.53109624_53109625del, NC_000019.9:g.53109625del, NC_000019.9:g.53109625dup, NC_000019.9:g.53109624_53109625dup, NC_000019.9:g.53109623_53109625dup, NC_000019.9:g.53109622_53109625dup, NC_000019.9:g.53109620_53109625dup, NC_000019.9:g.53109619_53109625dup, NC_000019.9:g.53109618_53109625dup, NC_000019.9:g.53109617_53109625dup, NC_000019.9:g.53109615_53109625dup, NC_000019.9:g.53109614_53109625dup, NC_000019.9:g.53109613_53109625dup

Select item 149110707113.

rs1491107071 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAATATATATGTAATATATATTAAATATATATGTAATATATATTATATA [Show Flanks]
Chromosome:: 19:52608341 (GRCh38)
19:53111595 (GRCh37)
Canonical SPDI:: NC_000019.10:52608341:AAATATATATGTAATATATATTATATA:AAATATATATGTAATATATATTATATAAAATATATATGTAATATATATTAAATATATATGTAATATATATTATATA
Validated:: by frequency
MAF:: AAATATATATGTAATATATATTATATAAAATATATATGTAATATATATT=0.000058/6 (GnomAD)
HGVS:: NC_000019.10:g.52608368_52608369insAAATATATATGTAATATATATTAAATATATATGTAATATATATTATATA, NC_000019.9:g.53111621_53111622insAAATATATATGTAATATATATTAAATATATATGTAATATATATTATATA

Select item 149105009614.

rs1491050096 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA [Show Flanks]
Chromosome:: 19:52608267 (GRCh38)
19:53111520 (GRCh37)
Canonical SPDI:: NC_000019.10:52608261:ATATATATA:ATATA,NC_000019.10:52608261:ATATATATA:ATATATA
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0.00553/90 (ALFA)
-=0.00213/36 (TOMMO)
-=0.00836/5 (NorthernSweden)
HGVS:: NC_000019.10:g.52608263TA[2], NC_000019.10:g.52608263TA[3], NC_000019.9:g.53111516TA[2], NC_000019.9:g.53111516TA[3]

Select item 149104657515.

rs1491046575 has merged into rs58462976 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 19:52610298 (GRCh38)
19:53113551 (GRCh37)
Canonical SPDI:: NC_000019.10:52610285:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:52610285:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:52610285:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:52610285:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:52610285:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:52610285:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:52610285:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:52610285:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:52610285:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.52610298_52610300del, NC_000019.10:g.52610299_52610300del, NC_000019.10:g.52610300del, NC_000019.10:g.52610300dup, NC_000019.10:g.52610299_52610300dup, NC_000019.10:g.52610298_52610300dup, NC_000019.10:g.52610297_52610300dup, NC_000019.10:g.52610296_52610300dup, NC_000019.10:g.52610293_52610300dup, NC_000019.9:g.53113551_53113553del, NC_000019.9:g.53113552_53113553del, NC_000019.9:g.53113553del, NC_000019.9:g.53113553dup, NC_000019.9:g.53113552_53113553dup, NC_000019.9:g.53113551_53113553dup, NC_000019.9:g.53113550_53113553dup, NC_000019.9:g.53113549_53113553dup, NC_000019.9:g.53113546_53113553dup

Select item 149103545516.

rs1491035455 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:52571114 (GRCh38)
19:53074367 (GRCh37)
Canonical SPDI:: NC_000019.10:52571112:AGA:A
Gene:: ZNF701 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00239/39 (ALFA)
-=0.00011/2 (TOMMO)
-=0.00982/44 (Estonian)
HGVS:: NC_000019.10:g.52571114_52571115del, NC_000019.9:g.53074367_53074368del

Select item 149093383217.

rs1490933832 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:52582893 (GRCh38)
19:53086146 (GRCh37)
Canonical SPDI:: NC_000019.10:52582892:A:
Gene:: ZNF701 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.52582893del, NC_000019.9:g.53086146del, NM_018260.3:c.834del, NM_018260.2:c.834del, XM_047439075.1:c.834del, XM_047439071.1:c.1032del, XM_047439072.1:c.1032del, XM_047439074.1:c.1032del, XM_047439077.1:c.834del, NM_001172655.1:c.1032del, XM_047439073.1:c.1032del, XM_047439076.1:c.834del, NP_060730.2:p.Phe279fs, XP_047295031.1:p.Phe279fs, XP_047295027.1:p.Phe345fs, XP_047295028.1:p.Phe345fs, XP_047295030.1:p.Phe345fs, XP_047295033.1:p.Phe279fs, NP_001166126.1:p.Phe345fs, XP_047295029.1:p.Phe345fs, XP_047295032.1:p.Phe279fs

Select item 149090956018.

rs1490909560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:52619938 (GRCh38)
19:53123191 (GRCh37)
Canonical SPDI:: NC_000019.10:52619937:T:C
Gene:: ZNF83 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.52619938T>C, NC_000019.9:g.53123191T>C, NG_052996.1:g.75644A>G

Select item 149083523819.

rs1490835238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52614097 (GRCh38)
19:53117350 (GRCh37)
Canonical SPDI:: NC_000019.10:52614096:C:T
Gene:: ZNF83 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.52614097C>T, NC_000019.9:g.53117350C>T, NG_052996.1:g.81485G>A, NM_018300.4:c.468G>A, NM_018300.3:c.468G>A, NM_001348017.2:c.468G>A, NM_001348017.1:c.468G>A, NM_001348015.2:c.468G>A, NM_001348015.1:c.468G>A, NM_001348019.2:c.468G>A, NM_001348019.1:c.468G>A, NM_001348018.2:c.468G>A, NM_001348018.1:c.468G>A, NM_001277945.2:c.468G>A, NM_001277945.1:c.468G>A, NM_001105549.2:c.468G>A, NM_001105549.1:c.468G>A, NM_001277947.2:c.468G>A, NM_001277947.1:c.468G>A, NM_001277949.2:c.468G>A, NM_001277949.1:c.468G>A, NM_001105551.2:c.468G>A, NM_001105551.1:c.468G>A, NM_001277952.2:c.468G>A, NM_001277952.1:c.468G>A, NM_001105550.2:c.468G>A, NM_001105550.1:c.468G>A, NM_001277948.2:c.468G>A, NM_001277948.1:c.468G>A, NM_001348016.2:c.468G>A, NM_001348016.1:c.468G>A, NM_001277946.2:c.468G>A, NM_001277946.1:c.468G>A, NM_001105552.2:c.468G>A, NM_001105552.1:c.468G>A, NM_001277951.2:c.468G>A, NM_001277951.1:c.468G>A, NR_003936.1:n.1316G>A, NM_001242531.1:c.468G>A, NM_001105553.1:c.468G>A, NM_001242538.1:c.468G>A, NM_001105554.1:c.468G>A

Select item 149080552420.

rs1490805524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52609362 (GRCh38)
19:53112615 (GRCh37)
Canonical SPDI:: NC_000019.10:52609361:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52609362C>T, NC_000019.9:g.53112615C>T

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