SNP Links for Gene (Select 102724708) - SNP

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Select item 14915813251.

rs1491581325 has merged into rs1288222816 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 8:67403673 (GRCh38)
8:68315908 (GRCh37)
Canonical SPDI:: NC_000008.11:67403665:TATATATAT:TATATAT,NC_000008.11:67403665:TATATATAT:TATATATATAT
Gene:: ARFGEF1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
-=0.00027/21 (GnomAD)
HGVS:: NC_000008.11:g.67403667AT[3], NC_000008.11:g.67403667AT[5], NC_000008.10:g.68315902AT[3], NC_000008.10:g.68315902AT[5]

Select item 14915809742.

rs1491580974 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:67379888 (GRCh38)
8:68292123 (GRCh37)
Canonical SPDI:: NC_000008.11:67379886:TCT:T
Gene:: ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000016/2 (GnomAD)
HGVS:: NC_000008.11:g.67379888_67379889del, NC_000008.10:g.68292123_68292124del

Select item 14915652873.

rs1491565287 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 8:67443068 (GRCh38)
8:68355304 (GRCh37)
Canonical SPDI:: NC_000008.11:67443068::C,NC_000008.11:67443068::G
Gene:: CPA6 (Varview), ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
G=0.00004/1 (TOMMO)
HGVS:: NC_000008.11:g.67443068_67443069insC, NC_000008.11:g.67443068_67443069insG, NC_000008.10:g.68355303_68355304insC, NC_000008.10:g.68355303_68355304insG, NG_027682.1:g.308317_308318insG, NG_027682.1:g.308317_308318insC

Select item 14915635004.

rs1491563500 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:67475866 (GRCh38)
8:68388102 (GRCh37)
Canonical SPDI:: NC_000008.11:67475866:C:CC
Gene:: CPA6 (Varview), ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000008.11:g.67475867dup, NC_000008.10:g.68388102dup, NG_027682.1:g.275519dup

Select item 14915602965.

rs1491560296 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:67476567 (GRCh38)
8:68388802 (GRCh37)
Canonical SPDI:: NC_000008.11:67476565:TGT:T
Gene:: CPA6 (Varview), ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000065/9 (GnomAD)
HGVS:: NC_000008.11:g.67476567_67476568del, NC_000008.10:g.68388802_68388803del, NG_027682.1:g.274819_274820del

Select item 14915562906.

rs1491556290 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TCCTTT,TCCTTTCTTT,TCTTTT,TT,TTT,TTTCTCCTTT,TTTCTTTCTCCTTT,TTTCTTTCTCCTTTCTTT,TTTT,TTTTCTTT,TTTTCTTTCTTT,TTTTCTTTT [Show Flanks]
Chromosome:: 8:67475881 (GRCh38)
8:68388117 (GRCh37)
Canonical SPDI:: NC_000008.11:67475881::T,NC_000008.11:67475881::TCCTTT,NC_000008.11:67475881::TCCTTTCTTT,NC_000008.11:67475881::TCTTTT,NC_000008.11:67475881::TT,NC_000008.11:67475881::TTT,NC_000008.11:67475881::TTTCTCCTTT,NC_000008.11:67475881::TTTCTTTCTCCTTT,NC_000008.11:67475881::TTTCTTTCTCCTTTCTTT,NC_000008.11:67475881::TTTT,NC_000008.11:67475881::TTTTCTTT,NC_000008.11:67475881::TTTTCTTTCTTT,NC_000008.11:67475881::TTTTCTTTT
Gene:: CPA6 (Varview), ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000008.11:g.67475881_67475882insT, NC_000008.11:g.67475881_67475882insTCCTTT, NC_000008.11:g.67475881_67475882insTCCTTTCTTT, NC_000008.11:g.67475881_67475882insTCTTTT, NC_000008.11:g.67475881_67475882insTT, NC_000008.11:g.67475881_67475882insTTT, NC_000008.11:g.67475881_67475882insTTTCTCCTTT, NC_000008.11:g.67475881_67475882insTTTCTTTCTCCTTT, NC_000008.11:g.67475881_67475882insTTTCTTTCTCCTTTCTTT, NC_000008.11:g.67475881_67475882insTTTT, NC_000008.11:g.67475881_67475882insTTTTCTTT, NC_000008.11:g.67475881_67475882insTTTTCTTTCTTT, NC_000008.11:g.67475881_67475882insTTTTCTTTT, NC_000008.10:g.68388116_68388117insT, NC_000008.10:g.68388116_68388117insTCCTTT, NC_000008.10:g.68388116_68388117insTCCTTTCTTT, NC_000008.10:g.68388116_68388117insTCTTTT, NC_000008.10:g.68388116_68388117insTT, NC_000008.10:g.68388116_68388117insTTT, NC_000008.10:g.68388116_68388117insTTTCTCCTTT, NC_000008.10:g.68388116_68388117insTTTCTTTCTCCTTT, NC_000008.10:g.68388116_68388117insTTTCTTTCTCCTTTCTTT, NC_000008.10:g.68388116_68388117insTTTT, NC_000008.10:g.68388116_68388117insTTTTCTTT, NC_000008.10:g.68388116_68388117insTTTTCTTTCTTT, NC_000008.10:g.68388116_68388117insTTTTCTTTT, NG_027682.1:g.275504_275505insA, NG_027682.1:g.275504_275505insAAAGGA, NG_027682.1:g.275504_275505insAAAGAAAGGA, NG_027682.1:g.275504_275505insAAAAGA, NG_027682.1:g.275504_275505insAA, NG_027682.1:g.275504_275505insAAA, NG_027682.1:g.275504_275505insAAAGGAGAAA, NG_027682.1:g.275504_275505insAAAGGAGAAAGAAA, NG_027682.1:g.275504_275505insAAAGAAAGGAGAAAGAAA, NG_027682.1:g.275504_275505insAAAA, NG_027682.1:g.275504_275505insAAAGAAAA, NG_027682.1:g.275504_275505insAAAGAAAGAAAA, NG_027682.1:g.275504_275505insAAAAGAAAA

Select item 14915463067.

rs1491546306 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:67403707 (GRCh38)
8:68315942 (GRCh37)
Canonical SPDI:: NC_000008.11:67403706:AA:
Gene:: ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.67403707_67403708del, NC_000008.10:g.68315942_68315943del

Select item 14915372638.

rs1491537263 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATATATTATGTACATATAT [Show Flanks]
Chromosome:: 8:67403338 (GRCh38)
8:68315574 (GRCh37)
Canonical SPDI:: NC_000008.11:67403338:TATATATTATGTACATATAT:TATATATTATGTACATATATTATATATTATGTACATATAT
Gene:: ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: TATATATTATGTACATATAT=0.00007/8 (GnomAD)
TATATATTATGTACATATAT=0.000071/1 (TOMMO)
TATATATTATGTACATATAT=0.001788/3 (Korea1K)
HGVS:: NC_000008.11:g.67403339_67403358dup, NC_000008.10:g.68315574_68315593dup

Select item 14915274529.

rs1491527452 has merged into rs1317871565 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 8:67475797 (GRCh38)
8:68388032 (GRCh37)
Canonical SPDI:: NC_000008.11:67475795:TCT:T,NC_000008.11:67475795:TCT:TCTCT
Gene:: CPA6 (Varview), ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000008.11:g.67475797_67475798del, NC_000008.11:g.67475797_67475798dup, NC_000008.10:g.68388032_68388033del, NC_000008.10:g.68388032_68388033dup, NG_027682.1:g.275589_275590del, NG_027682.1:g.275589_275590dup

Select item 149151793510.

rs1491517935 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:67403547 (GRCh38)
8:68315782 (GRCh37)
Canonical SPDI:: NC_000008.11:67403546:AA:
Gene:: ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00016/13 (GnomAD)
HGVS:: NC_000008.11:g.67403547_67403548del, NC_000008.10:g.68315782_68315783del

Select item 149150860711.

rs1491508607 has merged into rs1048918081 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:67375684 (GRCh38)
8:68287919 (GRCh37)
Canonical SPDI:: NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:67375674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.67375684_67375699del, NC_000008.11:g.67375686_67375699del, NC_000008.11:g.67375687_67375699del, NC_000008.11:g.67375688_67375699del, NC_000008.11:g.67375689_67375699del, NC_000008.11:g.67375690_67375699del, NC_000008.11:g.67375691_67375699del, NC_000008.11:g.67375692_67375699del, NC_000008.11:g.67375693_67375699del, NC_000008.11:g.67375694_67375699del, NC_000008.11:g.67375695_67375699del, NC_000008.11:g.67375696_67375699del, NC_000008.11:g.67375697_67375699del, NC_000008.11:g.67375698_67375699del, NC_000008.11:g.67375699del, NC_000008.11:g.67375699dup, NC_000008.11:g.67375698_67375699dup, NC_000008.11:g.67375697_67375699dup, NC_000008.11:g.67375696_67375699dup, NC_000008.11:g.67375695_67375699dup, NC_000008.11:g.67375694_67375699dup, NC_000008.11:g.67375693_67375699dup, NC_000008.11:g.67375692_67375699dup, NC_000008.11:g.67375691_67375699dup, NC_000008.11:g.67375690_67375699dup, NC_000008.10:g.68287919_68287934del, NC_000008.10:g.68287921_68287934del, NC_000008.10:g.68287922_68287934del, NC_000008.10:g.68287923_68287934del, NC_000008.10:g.68287924_68287934del, NC_000008.10:g.68287925_68287934del, NC_000008.10:g.68287926_68287934del, NC_000008.10:g.68287927_68287934del, NC_000008.10:g.68287928_68287934del, NC_000008.10:g.68287929_68287934del, NC_000008.10:g.68287930_68287934del, NC_000008.10:g.68287931_68287934del, NC_000008.10:g.68287932_68287934del, NC_000008.10:g.68287933_68287934del, NC_000008.10:g.68287934del, NC_000008.10:g.68287934dup, NC_000008.10:g.68287933_68287934dup, NC_000008.10:g.68287932_68287934dup, NC_000008.10:g.68287931_68287934dup, NC_000008.10:g.68287930_68287934dup, NC_000008.10:g.68287929_68287934dup, NC_000008.10:g.68287928_68287934dup, NC_000008.10:g.68287927_68287934dup, NC_000008.10:g.68287926_68287934dup, NC_000008.10:g.68287925_68287934dup

Select item 149149825412.

rs1491498254 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTT>-,CCTTCCTT [Show Flanks]
Chromosome:: 8:67475817 (GRCh38)
8:68388052 (GRCh37)
Canonical SPDI:: NC_000008.11:67475814:TTCCTT:TT,NC_000008.11:67475814:TTCCTT:TTCCTTCCTT
Gene:: CPA6 (Varview), ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCCTTCCTT=0./0 (ALFA)
-=0.00059/10 (TOMMO)
HGVS:: NC_000008.11:g.67475817_67475820del, NC_000008.11:g.67475817_67475820dup, NC_000008.10:g.68388052_68388055del, NC_000008.10:g.68388052_68388055dup, NG_027682.1:g.275568_275571del, NG_027682.1:g.275568_275571dup

Select item 149149230613.

rs1491492306 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:67386119 (GRCh38)
8:68298354 (GRCh37)
Canonical SPDI:: NC_000008.11:67386118:CA:
Gene:: ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.67386119_67386120del, NC_000008.10:g.68298354_68298355del

Select item 149149170614.

rs1491491706 has merged into rs371267097 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATATAT,ATATTACATGTAATATATATTATATATAT,ATATTACATGTAATATATATTATATATATTACATGTAATATATATTATATATAT [Show Flanks]
Chromosome:: 8:67403771 (GRCh38)
8:68316006 (GRCh37)
Canonical SPDI:: NC_000008.11:67403765:TATATAT:TATAT,NC_000008.11:67403765:TATATAT:TATATATAT,NC_000008.11:67403765:TATATAT:TATATATATAT,NC_000008.11:67403765:TATATAT:TATATATATATATAT,NC_000008.11:67403765:TATATAT:TATATATATTACATGTAATATATATTATATATAT,NC_000008.11:67403765:TATATAT:TATATATATTACATGTAATATATATTATATATATTACATGTAATATATATTATATATAT
Gene:: ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
TA=0.0312/1 (NorthernSweden)
-=0.0317/159 (1000Genomes)
TA=0.047/456 (TOMMO)
HGVS:: NC_000008.11:g.67403767AT[2], NC_000008.11:g.67403767AT[4], NC_000008.11:g.67403767AT[5], NC_000008.11:g.67403767AT[7], NC_000008.11:g.67403766_67403772TA[4]TTACATGTAATATATATTATATATAT[1], NC_000008.11:g.67403766_67403772TATATATATTACATGTAATATATAT[2]TA[4]T[1], NC_000008.10:g.68316002AT[2], NC_000008.10:g.68316002AT[4], NC_000008.10:g.68316002AT[5], NC_000008.10:g.68316002AT[7], NC_000008.10:g.68316001_68316007TA[4]TTACATGTAATATATATTATATATAT[1], NC_000008.10:g.68316001_68316007TATATATATTACATGTAATATATAT[2]TA[4]T[1]

Select item 149147626215.

rs1491476262 has merged into rs1312013905 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATA,TATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA [Show Flanks]
Chromosome:: 8:67413308 (GRCh38)
8:68325543 (GRCh37)
Canonical SPDI:: NC_000008.11:67413292:ATATATATATATATATATATATA:ATATATATATATATA,NC_000008.11:67413292:ATATATATATATATATATATATA:ATATATATATATATATA,NC_000008.11:67413292:ATATATATATATATATATATATA:ATATATATATATATATATA,NC_000008.11:67413292:ATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000008.11:67413292:ATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000008.11:67413292:ATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000008.11:67413292:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000008.11:67413292:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000008.11:67413292:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA
Gene:: ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000008.11:g.67413294TA[7], NC_000008.11:g.67413294TA[8], NC_000008.11:g.67413294TA[9], NC_000008.11:g.67413294TA[10], NC_000008.11:g.67413294TA[12], NC_000008.11:g.67413294TA[13], NC_000008.11:g.67413294TA[14], NC_000008.11:g.67413294TA[15], NC_000008.11:g.67413294TA[16], NC_000008.10:g.68325529TA[7], NC_000008.10:g.68325529TA[8], NC_000008.10:g.68325529TA[9], NC_000008.10:g.68325529TA[10], NC_000008.10:g.68325529TA[12], NC_000008.10:g.68325529TA[13], NC_000008.10:g.68325529TA[14], NC_000008.10:g.68325529TA[15], NC_000008.10:g.68325529TA[16]

Select item 149147535916.

rs1491475359 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:67403780 (GRCh38)
8:68316015 (GRCh37)
Canonical SPDI:: NC_000008.11:67403779:AA:
Gene:: ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00002/1 (GnomAD)
-=0.00004/1 (TOMMO)
HGVS:: NC_000008.11:g.67403780_67403781del, NC_000008.10:g.68316015_68316016del

Select item 149146520217.

rs1491465202 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:67373074 (GRCh38)
8:68285310 (GRCh37)
Canonical SPDI:: NC_000008.11:67373074::G
Gene:: ARFGEF1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.67373074_67373075insG, NC_000008.10:g.68285309_68285310insG

Select item 149144974318.

rs1491449743 has merged into rs10570927 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:67477301 (GRCh38)
8:68389536 (GRCh37)
Canonical SPDI:: NC_000008.11:67477289:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:67477289:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:67477289:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:67477289:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:67477289:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:67477289:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:67477289:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:67477289:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67477289:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67477289:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67477289:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67477289:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67477289:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CPA6 (Varview), ARFGEF1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.67477301_67477309del, NC_000008.11:g.67477302_67477309del, NC_000008.11:g.67477303_67477309del, NC_000008.11:g.67477306_67477309del, NC_000008.11:g.67477307_67477309del, NC_000008.11:g.67477308_67477309del, NC_000008.11:g.67477309del, NC_000008.11:g.67477309dup, NC_000008.11:g.67477308_67477309dup, NC_000008.11:g.67477307_67477309dup, NC_000008.11:g.67477306_67477309dup, NC_000008.11:g.67477304_67477309dup, NC_000008.11:g.67477303_67477309dup, NC_000008.10:g.68389536_68389544del, NC_000008.10:g.68389537_68389544del, NC_000008.10:g.68389538_68389544del, NC_000008.10:g.68389541_68389544del, NC_000008.10:g.68389542_68389544del, NC_000008.10:g.68389543_68389544del, NC_000008.10:g.68389544del, NC_000008.10:g.68389544dup, NC_000008.10:g.68389543_68389544dup, NC_000008.10:g.68389542_68389544dup, NC_000008.10:g.68389541_68389544dup, NC_000008.10:g.68389539_68389544dup, NC_000008.10:g.68389538_68389544dup, NG_027682.1:g.274088_274096del, NG_027682.1:g.274089_274096del, NG_027682.1:g.274090_274096del, NG_027682.1:g.274093_274096del, NG_027682.1:g.274094_274096del, NG_027682.1:g.274095_274096del, NG_027682.1:g.274096del, NG_027682.1:g.274096dup, NG_027682.1:g.274095_274096dup, NG_027682.1:g.274094_274096dup, NG_027682.1:g.274093_274096dup, NG_027682.1:g.274091_274096dup, NG_027682.1:g.274090_274096dup

Select item 149143485019.

rs1491434850 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 8:67403250 (GRCh38)
8:68315486 (GRCh37)
Canonical SPDI:: NC_000008.11:67403250:A:ACA
Gene:: ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.67403251_67403252insCA, NC_000008.10:g.68315486_68315487insCA

Select item 149143435020.

rs1491434350 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:67403807 (GRCh38)
8:68316042 (GRCh37)
Canonical SPDI:: NC_000008.11:67403806:AA:
Gene:: ARFGEF1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000008.11:g.67403807_67403808del, NC_000008.10:g.68316042_68316043del

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