SNP Links for Gene (Select 3055) - SNP

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Select item 14915882541.

rs1491588254 has merged into rs11482239 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:32067541 (GRCh38)
20:30655344 (GRCh37)
Canonical SPDI:: NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:32067531:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.483/2419 (1000Genomes)
HGVS:: NC_000020.11:g.32067541_32067552del, NC_000020.11:g.32067543_32067552del, NC_000020.11:g.32067544_32067552del, NC_000020.11:g.32067546_32067552del, NC_000020.11:g.32067547_32067552del, NC_000020.11:g.32067548_32067552del, NC_000020.11:g.32067549_32067552del, NC_000020.11:g.32067551_32067552del, NC_000020.11:g.32067552del, NC_000020.11:g.32067552dup, NC_000020.11:g.32067551_32067552dup, NC_000020.11:g.32067550_32067552dup, NC_000020.11:g.32067549_32067552dup, NC_000020.11:g.32067548_32067552dup, NC_000020.11:g.32067547_32067552dup, NC_000020.11:g.32067546_32067552dup, NC_000020.11:g.32067545_32067552dup, NC_000020.11:g.32067544_32067552dup, NC_000020.11:g.32067543_32067552dup, NC_000020.11:g.32067541_32067552dup, NC_000020.11:g.32067540_32067552dup, NC_000020.11:g.32067539_32067552dup, NC_000020.11:g.32067538_32067552dup, NC_000020.11:g.32067533_32067552dup, NC_000020.10:g.30655344_30655355del, NC_000020.10:g.30655346_30655355del, NC_000020.10:g.30655347_30655355del, NC_000020.10:g.30655349_30655355del, NC_000020.10:g.30655350_30655355del, NC_000020.10:g.30655351_30655355del, NC_000020.10:g.30655352_30655355del, NC_000020.10:g.30655354_30655355del, NC_000020.10:g.30655355del, NC_000020.10:g.30655355dup, NC_000020.10:g.30655354_30655355dup, NC_000020.10:g.30655353_30655355dup, NC_000020.10:g.30655352_30655355dup, NC_000020.10:g.30655351_30655355dup, NC_000020.10:g.30655350_30655355dup, NC_000020.10:g.30655349_30655355dup, NC_000020.10:g.30655348_30655355dup, NC_000020.10:g.30655347_30655355dup, NC_000020.10:g.30655346_30655355dup, NC_000020.10:g.30655344_30655355dup, NC_000020.10:g.30655343_30655355dup, NC_000020.10:g.30655342_30655355dup, NC_000020.10:g.30655341_30655355dup, NC_000020.10:g.30655336_30655355dup, NG_029471.1:g.20354_20365del, NG_029471.1:g.20356_20365del, NG_029471.1:g.20357_20365del, NG_029471.1:g.20359_20365del, NG_029471.1:g.20360_20365del, NG_029471.1:g.20361_20365del, NG_029471.1:g.20362_20365del, NG_029471.1:g.20364_20365del, NG_029471.1:g.20365del, NG_029471.1:g.20365dup, NG_029471.1:g.20364_20365dup, NG_029471.1:g.20363_20365dup, NG_029471.1:g.20362_20365dup, NG_029471.1:g.20361_20365dup, NG_029471.1:g.20360_20365dup, NG_029471.1:g.20359_20365dup, NG_029471.1:g.20358_20365dup, NG_029471.1:g.20357_20365dup, NG_029471.1:g.20356_20365dup, NG_029471.1:g.20354_20365dup, NG_029471.1:g.20353_20365dup, NG_029471.1:g.20352_20365dup, NG_029471.1:g.20351_20365dup, NG_029471.1:g.20346_20365dup

Select item 14915512582.

rs1491551258 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 20:32091809 (GRCh38)
20:30679612 (GRCh37)
Canonical SPDI:: NC_000020.11:32091808:TA:
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000020.11:g.32091809_32091810del, NC_000020.10:g.30679612_30679613del, NG_029471.1:g.44622_44623del

Select item 14915458713.

rs1491545871 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 20:32094811 (GRCh38)
20:30682614 (GRCh37)
Canonical SPDI:: NC_000020.11:32094809:AAA:A,NC_000020.11:32094809:AAA:AA
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00045/8 (TOMMO)
-=0.00164/3 (Korea1K)
-=0.00837/806 (GnomAD)
-=0.03/15 (NorthernSweden)
HGVS:: NC_000020.11:g.32094811_32094812del, NC_000020.11:g.32094812del, NC_000020.10:g.30682614_30682615del, NC_000020.10:g.30682615del, NG_029471.1:g.47624_47625del, NG_029471.1:g.47625del

Select item 14915435854.

rs1491543585 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:32094703 (GRCh38)
20:30682507 (GRCh37)
Canonical SPDI:: NC_000020.11:32094703:G:GG
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.00011/7 (GnomAD)
HGVS:: NC_000020.11:g.32094704dup, NC_000020.10:g.30682507dup, NG_029471.1:g.47517dup

Select item 14915310215.

rs1491531021 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 20:32094803 (GRCh38)
20:30682606 (GRCh37)
Canonical SPDI:: NC_000020.11:32094801:AAA:A,NC_000020.11:32094801:AAA:AA
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00017/2 (ALFA)
-=0.00206/32 (TOMMO)
-=0.01427/683 (GnomAD)
HGVS:: NC_000020.11:g.32094803_32094804del, NC_000020.11:g.32094804del, NC_000020.10:g.30682606_30682607del, NC_000020.10:g.30682607del, NG_029471.1:g.47616_47617del, NG_029471.1:g.47617del

Select item 14915073336.

rs1491507333 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 20:32052793 (GRCh38)
20:30640597 (GRCh37)
Canonical SPDI:: NC_000020.11:32052793:G:GTG
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000020.11:g.32052794_32052795insTG, NC_000020.10:g.30640597_30640598insTG, NG_029471.1:g.5607_5608insTG

Select item 14915037397.

rs1491503739 has merged into rs377179319 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGGGGGG [Show Flanks]
Chromosome:: 20:32078885 (GRCh38)
20:30666688 (GRCh37)
Canonical SPDI:: NC_000020.11:32078879:GGGGGGG:GGGGG,NC_000020.11:32078879:GGGGGGG:GGGGGG,NC_000020.11:32078879:GGGGGGG:GGGGGGGG,NC_000020.11:32078879:GGGGGGG:GGGGGGGGG,NC_000020.11:32078879:GGGGGGG:GGGGGGGGGGGGGG
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.037664/69 (Korea1K)
HGVS:: NC_000020.11:g.32078885_32078886del, NC_000020.11:g.32078886del, NC_000020.11:g.32078886dup, NC_000020.11:g.32078885_32078886dup, NC_000020.11:g.32078880_32078886dup, NC_000020.10:g.30666688_30666689del, NC_000020.10:g.30666689del, NC_000020.10:g.30666689dup, NC_000020.10:g.30666688_30666689dup, NC_000020.10:g.30666683_30666689dup, NG_029471.1:g.31698_31699del, NG_029471.1:g.31699del, NG_029471.1:g.31699dup, NG_029471.1:g.31698_31699dup, NG_029471.1:g.31693_31699dup

Select item 14914384248.

rs1491438424 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:32094814 (GRCh38)
20:30682618 (GRCh37)
Canonical SPDI:: NC_000020.11:32094814::G
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000513/69 (GnomAD)
HGVS:: NC_000020.11:g.32094814_32094815insG, NC_000020.10:g.30682617_30682618insG, NG_029471.1:g.47627_47628insG

Select item 14914357129.

rs1491435712 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:32096499 (GRCh38)
20:30684302 (GRCh37)
Canonical SPDI:: NC_000020.11:32096498:CA:
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00481/57 (ALFA)
HGVS:: NC_000020.11:g.32096499_32096500del, NC_000020.10:g.30684302_30684303del, NG_029471.1:g.49312_49313del

Select item 149138721910.

rs1491387219 has merged into rs58517209 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTGTGCG,TGTGTGG,TGTGTGTGCG,TGTGTGTGTGCG,TGTGTGTGTGTGTGCG [Show Flanks]
Chromosome:: 20:32093522 (GRCh38)
20:30681326 (GRCh37)
Canonical SPDI:: NC_000020.11:32093522:G:GTGTGTGCG,NC_000020.11:32093522:G:GTGTGTGG,NC_000020.11:32093522:G:GTGTGTGTGCG,NC_000020.11:32093522:G:GTGTGTGTGTGCG,NC_000020.11:32093522:G:GTGTGTGTGTGTGTGCG
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGCG=0./0 (ALFA)
GTGTGTGTGTGC=0.000101/14 (GnomAD)
GTGTGTGTGTGC=0.028317/105 (TWINSUK)
GTGTGTGTGTGC=0.041256/159 (ALSPAC)
HGVS:: NC_000020.11:g.32093523GT[3]GCG[1], NC_000020.11:g.32093523GT[3]GG[1], NC_000020.11:g.32093523GT[4]GCG[1], NC_000020.11:g.32093523GT[5]GCG[1], NC_000020.11:g.32093523GT[7]GCG[1], NC_000020.10:g.30681326GT[3]GCG[1], NC_000020.10:g.30681326GT[3]GG[1], NC_000020.10:g.30681326GT[4]GCG[1], NC_000020.10:g.30681326GT[5]GCG[1], NC_000020.10:g.30681326GT[7]GCG[1], NG_029471.1:g.46336GT[3]GCG[1], NG_029471.1:g.46336GT[3]GG[1], NG_029471.1:g.46336GT[4]GCG[1], NG_029471.1:g.46336GT[5]GCG[1], NG_029471.1:g.46336GT[7]GCG[1]

Select item 149135606511.

rs1491356065 has merged into rs1421429584 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 20:32059423 (GRCh38)
20:30647226 (GRCh37)
Canonical SPDI:: NC_000020.11:32059421:TTT:T,NC_000020.11:32059421:TTT:TTTTT
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00006/1 (ALFA)
HGVS:: NC_000020.11:g.32059423_32059424del, NC_000020.11:g.32059423_32059424dup, NC_000020.10:g.30647226_30647227del, NC_000020.10:g.30647226_30647227dup, NG_029471.1:g.12236_12237del, NG_029471.1:g.12236_12237dup

Select item 149133863612.

rs1491338636 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 20:32094751 (GRCh38)
20:30682554 (GRCh37)
Canonical SPDI:: NC_000020.11:32094749:AAA:A,NC_000020.11:32094749:AAA:AA
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000044/1 (TOMMO)
HGVS:: NC_000020.11:g.32094751_32094752del, NC_000020.11:g.32094752del, NC_000020.10:g.30682554_30682555del, NC_000020.10:g.30682555del, NG_029471.1:g.47564_47565del, NG_029471.1:g.47565del

Select item 149132390413.

rs1491323904 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:32078879 (GRCh38)
20:30666682 (GRCh37)
Canonical SPDI:: NC_000020.11:32078878:AG:
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00011/3 (TOMMO)
HGVS:: NC_000020.11:g.32078879_32078880del, NC_000020.10:g.30666682_30666683del, NG_029471.1:g.31692_31693del

Select item 149130790014.

rs1491307900 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 20:32056874 (GRCh38)
20:30644677 (GRCh37)
Canonical SPDI:: NC_000020.11:32056871:ACAC:AC
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAC=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000038/10 (TOPMED)
HGVS:: NC_000020.11:g.32056872AC[1], NC_000020.10:g.30644675AC[1], NG_029471.1:g.9685AC[1]

Select item 149130696115.

rs1491306961 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G [Show Flanks]
Chromosome:: 20:32052795 (GRCh38)
20:30640598 (GRCh37)
Canonical SPDI:: NC_000020.11:32052792:GGGG:GG,NC_000020.11:32052792:GGGG:GGG
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.00268/45 (TOMMO)
HGVS:: NC_000020.11:g.32052795_32052796del, NC_000020.11:g.32052796del, NC_000020.10:g.30640598_30640599del, NC_000020.10:g.30640599del, NG_029471.1:g.5608_5609del, NG_029471.1:g.5609del

Select item 149130655216.

rs1491306552 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGGCAC [Show Flanks]
Chromosome:: 20:32056872 (GRCh38)
20:30644676 (GRCh37)
Canonical SPDI:: NC_000020.11:32056872:CACCTGGCACCTGGCAC:CACCTGGCACCTGGCACCTGGCAC
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACCTGGCACCTGGCACCTGGCAC=0.000071/1 (ALFA)
CACCTGG=0.000015/4 (TOPMED)
CACCTGG=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.32056876CTGGCAC[3], NC_000020.10:g.30644679CTGGCAC[3], NG_029471.1:g.9689CTGGCAC[3]

Select item 149130028517.

rs1491300285 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:32094750 (GRCh38)
20:30682554 (GRCh37)
Canonical SPDI:: NC_000020.11:32094750::G
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000016/2 (GnomAD)
HGVS:: NC_000020.11:g.32094750_32094751insG, NC_000020.10:g.30682553_30682554insG, NG_029471.1:g.47563_47564insG

Select item 149129544118.

rs1491295441 has merged into rs5841096 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 20:32091821 (GRCh38)
20:30679624 (GRCh37)
Canonical SPDI:: NC_000020.11:32091809:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:32091809:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:32091809:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:32091809:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.3252/1206 (TWINSUK)
-=0.3287/1267 (ALSPAC)
-=0.35/14 (GENOME_DK)
-=0.3733/224 (NorthernSweden)
-=0.4846/2427 (1000Genomes)
HGVS:: NC_000020.11:g.32091821_32091823del, NC_000020.11:g.32091822_32091823del, NC_000020.11:g.32091823del, NC_000020.11:g.32091823dup, NC_000020.10:g.30679624_30679626del, NC_000020.10:g.30679625_30679626del, NC_000020.10:g.30679626del, NC_000020.10:g.30679626dup, NG_029471.1:g.44634_44636del, NG_029471.1:g.44635_44636del, NG_029471.1:g.44636del, NG_029471.1:g.44636dup

Select item 149126540119.

rs1491265401 has merged into rs55905450 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:32096510 (GRCh38)
20:30684313 (GRCh37)
Canonical SPDI:: NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32096499:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.32096510_32096521del, NC_000020.11:g.32096512_32096521del, NC_000020.11:g.32096513_32096521del, NC_000020.11:g.32096514_32096521del, NC_000020.11:g.32096515_32096521del, NC_000020.11:g.32096516_32096521del, NC_000020.11:g.32096517_32096521del, NC_000020.11:g.32096518_32096521del, NC_000020.11:g.32096519_32096521del, NC_000020.11:g.32096520_32096521del, NC_000020.11:g.32096521del, NC_000020.11:g.32096521dup, NC_000020.11:g.32096520_32096521dup, NC_000020.11:g.32096519_32096521dup, NC_000020.11:g.32096518_32096521dup, NC_000020.11:g.32096517_32096521dup, NC_000020.11:g.32096516_32096521dup, NC_000020.10:g.30684313_30684324del, NC_000020.10:g.30684315_30684324del, NC_000020.10:g.30684316_30684324del, NC_000020.10:g.30684317_30684324del, NC_000020.10:g.30684318_30684324del, NC_000020.10:g.30684319_30684324del, NC_000020.10:g.30684320_30684324del, NC_000020.10:g.30684321_30684324del, NC_000020.10:g.30684322_30684324del, NC_000020.10:g.30684323_30684324del, NC_000020.10:g.30684324del, NC_000020.10:g.30684324dup, NC_000020.10:g.30684323_30684324dup, NC_000020.10:g.30684322_30684324dup, NC_000020.10:g.30684321_30684324dup, NC_000020.10:g.30684320_30684324dup, NC_000020.10:g.30684319_30684324dup, NG_029471.1:g.49323_49334del, NG_029471.1:g.49325_49334del, NG_029471.1:g.49326_49334del, NG_029471.1:g.49327_49334del, NG_029471.1:g.49328_49334del, NG_029471.1:g.49329_49334del, NG_029471.1:g.49330_49334del, NG_029471.1:g.49331_49334del, NG_029471.1:g.49332_49334del, NG_029471.1:g.49333_49334del, NG_029471.1:g.49334del, NG_029471.1:g.49334dup, NG_029471.1:g.49333_49334dup, NG_029471.1:g.49332_49334dup, NG_029471.1:g.49331_49334dup, NG_029471.1:g.49330_49334dup, NG_029471.1:g.49329_49334dup

Select item 149115186920.

rs1491151869 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>A,G [Show Flanks]
Chromosome:: 20:32094703 (GRCh38)
20:30682506 (GRCh37)
Canonical SPDI:: NC_000020.11:32094702:AGA:A,NC_000020.11:32094702:AGA:G
Gene:: HCK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.02124/252 (ALFA)
HGVS:: NC_000020.11:g.32094704_32094705del, NC_000020.11:g.32094703_32094705delinsG, NC_000020.10:g.30682507_30682508del, NC_000020.10:g.30682506_30682508delinsG, NG_029471.1:g.47517_47518del, NG_029471.1:g.47516_47518delinsG

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