SNP Links for Gene (Select 55731) - SNP

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Select item 14915891741.

rs1491589174 has merged into rs34242589 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:28797003 (GRCh38)
17:27124021 (GRCh37)
Canonical SPDI:: NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28796994:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FAM222B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.28797003_28797019del, NC_000017.11:g.28797006_28797019del, NC_000017.11:g.28797007_28797019del, NC_000017.11:g.28797008_28797019del, NC_000017.11:g.28797009_28797019del, NC_000017.11:g.28797010_28797019del, NC_000017.11:g.28797011_28797019del, NC_000017.11:g.28797012_28797019del, NC_000017.11:g.28797013_28797019del, NC_000017.11:g.28797014_28797019del, NC_000017.11:g.28797015_28797019del, NC_000017.11:g.28797016_28797019del, NC_000017.11:g.28797017_28797019del, NC_000017.11:g.28797018_28797019del, NC_000017.11:g.28797019del, NC_000017.11:g.28797019dup, NC_000017.11:g.28797018_28797019dup, NC_000017.11:g.28797017_28797019dup, NC_000017.11:g.28797016_28797019dup, NC_000017.11:g.28797015_28797019dup, NC_000017.11:g.28797014_28797019dup, NC_000017.11:g.28797013_28797019dup, NC_000017.11:g.28797012_28797019dup, NC_000017.11:g.28797011_28797019dup, NC_000017.11:g.28797019_28797020insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.27124021_27124037del, NC_000017.10:g.27124024_27124037del, NC_000017.10:g.27124025_27124037del, NC_000017.10:g.27124026_27124037del, NC_000017.10:g.27124027_27124037del, NC_000017.10:g.27124028_27124037del, NC_000017.10:g.27124029_27124037del, NC_000017.10:g.27124030_27124037del, NC_000017.10:g.27124031_27124037del, NC_000017.10:g.27124032_27124037del, NC_000017.10:g.27124033_27124037del, NC_000017.10:g.27124034_27124037del, NC_000017.10:g.27124035_27124037del, NC_000017.10:g.27124036_27124037del, NC_000017.10:g.27124037del, NC_000017.10:g.27124037dup, NC_000017.10:g.27124036_27124037dup, NC_000017.10:g.27124035_27124037dup, NC_000017.10:g.27124034_27124037dup, NC_000017.10:g.27124033_27124037dup, NC_000017.10:g.27124032_27124037dup, NC_000017.10:g.27124031_27124037dup, NC_000017.10:g.27124030_27124037dup, NC_000017.10:g.27124029_27124037dup, NC_000017.10:g.27124037_27124038insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915884812.

rs1491588481 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:28778670 (GRCh38)
17:27105688 (GRCh37)
Canonical SPDI:: NC_000017.11:28778669:AT:
Gene:: FAM222B (Varview), LOC124903965 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00004/3 (GnomAD)
HGVS:: NC_000017.11:g.28778670_28778671del, NC_000017.10:g.27105688_27105689del

Select item 14915796643.

rs1491579664 has merged into rs71359260 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:28853204 (GRCh38)
17:27180222 (GRCh37)
Canonical SPDI:: NC_000017.11:28853193:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:28853193:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:28853193:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:28853193:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:28853193:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:28853193:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:28853193:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:28853193:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:28853193:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:28853193:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28853193:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28853193:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.2404/1204 (1000Genomes)
HGVS:: NC_000017.11:g.28853204_28853211del, NC_000017.11:g.28853205_28853211del, NC_000017.11:g.28853207_28853211del, NC_000017.11:g.28853208_28853211del, NC_000017.11:g.28853209_28853211del, NC_000017.11:g.28853210_28853211del, NC_000017.11:g.28853211del, NC_000017.11:g.28853211dup, NC_000017.11:g.28853210_28853211dup, NC_000017.11:g.28853209_28853211dup, NC_000017.11:g.28853206_28853211dup, NC_000017.11:g.28853205_28853211dup, NC_000017.10:g.27180222_27180229del, NC_000017.10:g.27180223_27180229del, NC_000017.10:g.27180225_27180229del, NC_000017.10:g.27180226_27180229del, NC_000017.10:g.27180227_27180229del, NC_000017.10:g.27180228_27180229del, NC_000017.10:g.27180229del, NC_000017.10:g.27180229dup, NC_000017.10:g.27180228_27180229dup, NC_000017.10:g.27180227_27180229dup, NC_000017.10:g.27180224_27180229dup, NC_000017.10:g.27180223_27180229dup

Select item 14915718684.

rs1491571868 [Homo sapiens]

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

Select item 14915698495.

rs1491569849 [Homo sapiens]

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

Select item 14915474866.

rs1491547486 has merged into rs111471814 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:28772583 (GRCh38)
17:27099601 (GRCh37)
Canonical SPDI:: NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM222B (Varview), LOC124903965 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.46805/2344 (1000Genomes)
HGVS:: NC_000017.11:g.28772583_28772589del, NC_000017.11:g.28772585_28772589del, NC_000017.11:g.28772586_28772589del, NC_000017.11:g.28772587_28772589del, NC_000017.11:g.28772588_28772589del, NC_000017.11:g.28772589del, NC_000017.11:g.28772589dup, NC_000017.11:g.28772588_28772589dup, NC_000017.11:g.28772587_28772589dup, NC_000017.11:g.28772586_28772589dup, NC_000017.11:g.28772575_28772589dup, NC_000017.10:g.27099601_27099607del, NC_000017.10:g.27099603_27099607del, NC_000017.10:g.27099604_27099607del, NC_000017.10:g.27099605_27099607del, NC_000017.10:g.27099606_27099607del, NC_000017.10:g.27099607del, NC_000017.10:g.27099607dup, NC_000017.10:g.27099606_27099607dup, NC_000017.10:g.27099605_27099607dup, NC_000017.10:g.27099604_27099607dup, NC_000017.10:g.27099593_27099607dup

Select item 14915307827.

rs1491530782 has merged into rs1254235399 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 17:28822844 (GRCh38)
17:27149862 (GRCh37)
Canonical SPDI:: NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:28822832:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: FAM222B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000017.11:g.28822834TA[5], NC_000017.11:g.28822834TA[6], NC_000017.11:g.28822834TA[7], NC_000017.11:g.28822834TA[8], NC_000017.11:g.28822834TA[9], NC_000017.11:g.28822834TA[10], NC_000017.11:g.28822834TA[11], NC_000017.11:g.28822834TA[12], NC_000017.11:g.28822834TA[13], NC_000017.11:g.28822834TA[14], NC_000017.11:g.28822834TA[15], NC_000017.11:g.28822834TA[17], NC_000017.11:g.28822834TA[18], NC_000017.11:g.28822834TA[19], NC_000017.11:g.28822834TA[20], NC_000017.11:g.28822834TA[21], NC_000017.11:g.28822834TA[22], NC_000017.11:g.28822834TA[23], NC_000017.11:g.28822834TA[24], NC_000017.11:g.28822834TA[25], NC_000017.10:g.27149852TA[5], NC_000017.10:g.27149852TA[6], NC_000017.10:g.27149852TA[7], NC_000017.10:g.27149852TA[8], NC_000017.10:g.27149852TA[9], NC_000017.10:g.27149852TA[10], NC_000017.10:g.27149852TA[11], NC_000017.10:g.27149852TA[12], NC_000017.10:g.27149852TA[13], NC_000017.10:g.27149852TA[14], NC_000017.10:g.27149852TA[15], NC_000017.10:g.27149852TA[17], NC_000017.10:g.27149852TA[18], NC_000017.10:g.27149852TA[19], NC_000017.10:g.27149852TA[20], NC_000017.10:g.27149852TA[21], NC_000017.10:g.27149852TA[22], NC_000017.10:g.27149852TA[23], NC_000017.10:g.27149852TA[24], NC_000017.10:g.27149852TA[25]

Select item 14915177038.

rs1491517703 has merged into rs397857027 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:28789092 (GRCh38)
17:27116110 (GRCh37)
Canonical SPDI:: NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28789079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM222B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000042/11 (TOPMED)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000017.11:g.28789092_28789103del, NC_000017.11:g.28789093_28789103del, NC_000017.11:g.28789097_28789103del, NC_000017.11:g.28789098_28789103del, NC_000017.11:g.28789100_28789103del, NC_000017.11:g.28789101_28789103del, NC_000017.11:g.28789102_28789103del, NC_000017.11:g.28789103del, NC_000017.11:g.28789103dup, NC_000017.11:g.28789102_28789103dup, NC_000017.11:g.28789101_28789103dup, NC_000017.11:g.28789100_28789103dup, NC_000017.11:g.28789099_28789103dup, NC_000017.11:g.28789098_28789103dup, NC_000017.11:g.28789097_28789103dup, NC_000017.11:g.28789092_28789103dup, NC_000017.11:g.28789091_28789103dup, NC_000017.10:g.27116110_27116121del, NC_000017.10:g.27116111_27116121del, NC_000017.10:g.27116115_27116121del, NC_000017.10:g.27116116_27116121del, NC_000017.10:g.27116118_27116121del, NC_000017.10:g.27116119_27116121del, NC_000017.10:g.27116120_27116121del, NC_000017.10:g.27116121del, NC_000017.10:g.27116121dup, NC_000017.10:g.27116120_27116121dup, NC_000017.10:g.27116119_27116121dup, NC_000017.10:g.27116118_27116121dup, NC_000017.10:g.27116117_27116121dup, NC_000017.10:g.27116116_27116121dup, NC_000017.10:g.27116115_27116121dup, NC_000017.10:g.27116110_27116121dup, NC_000017.10:g.27116109_27116121dup

Select item 14915052209.

rs1491505220 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:28797019 (GRCh38)
17:27124037 (GRCh37)
Canonical SPDI:: NC_000017.11:28797018:TG:
Gene:: FAM222B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.28797019_28797020del, NC_000017.10:g.27124037_27124038del

Select item 149150313210.

rs1491503132 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AG,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATAA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA [Show Flanks]
Chromosome:: 17:28778720 (GRCh38)
17:27105739 (GRCh37)
Canonical SPDI:: NC_000017.11:28778720::A,NC_000017.11:28778720::AG,NC_000017.11:28778720::ATA,NC_000017.11:28778720::ATATA,NC_000017.11:28778720::ATATATA,NC_000017.11:28778720::ATATATATA,NC_000017.11:28778720::ATATATATATA,NC_000017.11:28778720::ATATATATATATA,NC_000017.11:28778720::ATATATATATATAA,NC_000017.11:28778720::ATATATATATATATA,NC_000017.11:28778720::ATATATATATATATATA,NC_000017.11:28778720::ATATATATATATATATATA,NC_000017.11:28778720::ATATATATATATATATATATA
Gene:: FAM222B (Varview), LOC124903965 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
HGVS:: NC_000017.11:g.28778720_28778721insA, NC_000017.11:g.28778720_28778721insAG, NC_000017.11:g.28778720_28778721insATA, NC_000017.11:g.28778720_28778721insATATA, NC_000017.11:g.28778720_28778721insATATATA, NC_000017.11:g.28778720_28778721insATATATATA, NC_000017.11:g.28778720_28778721insATATATATATA, NC_000017.11:g.28778720_28778721insATATATATATATA, NC_000017.11:g.28778720_28778721insATATATATATATAA, NC_000017.11:g.28778720_28778721insATATATATATATATA, NC_000017.11:g.28778720_28778721insATATATATATATATATA, NC_000017.11:g.28778720_28778721insATATATATATATATATATA, NC_000017.11:g.28778720_28778721insATATATATATATATATATATA, NC_000017.10:g.27105738_27105739insA, NC_000017.10:g.27105738_27105739insAG, NC_000017.10:g.27105738_27105739insATA, NC_000017.10:g.27105738_27105739insATATA, NC_000017.10:g.27105738_27105739insATATATA, NC_000017.10:g.27105738_27105739insATATATATA, NC_000017.10:g.27105738_27105739insATATATATATA, NC_000017.10:g.27105738_27105739insATATATATATATA, NC_000017.10:g.27105738_27105739insATATATATATATAA, NC_000017.10:g.27105738_27105739insATATATATATATATA, NC_000017.10:g.27105738_27105739insATATATATATATATATA, NC_000017.10:g.27105738_27105739insATATATATATATATATATA, NC_000017.10:g.27105738_27105739insATATATATATATATATATATA

Select item 149148182011.

rs1491481820 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:28801451 (GRCh38)
17:27128469 (GRCh37)
Canonical SPDI:: NC_000017.11:28801450:CA:
Gene:: FAM222B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00641/76 (ALFA)
-=0.00206/58 (TOMMO)
HGVS:: NC_000017.11:g.28801451_28801452del, NC_000017.10:g.27128469_27128470del

Select item 149146132912.

rs1491461329 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:28796995 (GRCh38)
17:27124014 (GRCh37)
Canonical SPDI:: NC_000017.11:28796995::G
Gene:: FAM222B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.28796995_28796996insG, NC_000017.10:g.27124013_27124014insG

Select item 149144674413.

rs1491446744 has merged into rs35314377 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:28764282 (GRCh38)
17:27091300 (GRCh37)
Canonical SPDI:: NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28764271:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM222B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.28764282_28764294del, NC_000017.11:g.28764283_28764294del, NC_000017.11:g.28764284_28764294del, NC_000017.11:g.28764285_28764294del, NC_000017.11:g.28764287_28764294del, NC_000017.11:g.28764288_28764294del, NC_000017.11:g.28764291_28764294del, NC_000017.11:g.28764292_28764294del, NC_000017.11:g.28764293_28764294del, NC_000017.11:g.28764294del, NC_000017.11:g.28764294dup, NC_000017.11:g.28764293_28764294dup, NC_000017.11:g.28764292_28764294dup, NC_000017.11:g.28764291_28764294dup, NC_000017.11:g.28764290_28764294dup, NC_000017.11:g.28764287_28764294dup, NC_000017.11:g.28764285_28764294dup, NC_000017.10:g.27091300_27091312del, NC_000017.10:g.27091301_27091312del, NC_000017.10:g.27091302_27091312del, NC_000017.10:g.27091303_27091312del, NC_000017.10:g.27091305_27091312del, NC_000017.10:g.27091306_27091312del, NC_000017.10:g.27091309_27091312del, NC_000017.10:g.27091310_27091312del, NC_000017.10:g.27091311_27091312del, NC_000017.10:g.27091312del, NC_000017.10:g.27091312dup, NC_000017.10:g.27091311_27091312dup, NC_000017.10:g.27091310_27091312dup, NC_000017.10:g.27091309_27091312dup, NC_000017.10:g.27091308_27091312dup, NC_000017.10:g.27091305_27091312dup, NC_000017.10:g.27091303_27091312dup

Select item 149144496614.

rs1491444966 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:28855793 (GRCh38)
17:27182812 (GRCh37)
Canonical SPDI:: NC_000017.11:28855793::A
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00019/12 (GnomAD)
HGVS:: NC_000017.11:g.28855793_28855794insA, NC_000017.10:g.27182811_27182812insA

Select item 149144084915.

rs1491440849 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:28762626 (GRCh38)
17:27089644 (GRCh37)
Canonical SPDI:: NC_000017.11:28762625:CA:
Gene:: FAM222B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00011/3 (TOMMO)
HGVS:: NC_000017.11:g.28762626_28762627del, NC_000017.10:g.27089644_27089645del

Select item 149144046816.

rs1491440468 has merged into rs201479723 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 17:28813138 (GRCh38)
17:27140156 (GRCh37)
Canonical SPDI:: NC_000017.11:28813127:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:28813127:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:28813127:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:28813127:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:28813127:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:28813127:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: FAM222B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.125/5 (GENOME_DK)
HGVS:: NC_000017.11:g.28813138_28813141del, NC_000017.11:g.28813139_28813141del, NC_000017.11:g.28813140_28813141del, NC_000017.11:g.28813141del, NC_000017.11:g.28813141dup, NC_000017.11:g.28813140_28813141dup, NC_000017.10:g.27140156_27140159del, NC_000017.10:g.27140157_27140159del, NC_000017.10:g.27140158_27140159del, NC_000017.10:g.27140159del, NC_000017.10:g.27140159dup, NC_000017.10:g.27140158_27140159dup

Select item 149143754617.

rs1491437546 has merged into rs770534717 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:28843138 (GRCh38)
17:27170156 (GRCh37)
Canonical SPDI:: NC_000017.11:28843136:TCT:T
Gene:: FAM222B (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000253/3 (ALFA)
-=0.000265/34 (GnomAD)
-=0.000625/4 (1000Genomes)
-=0.000955/16 (TOMMO)
-=0.013172/24 (Korea1K)
HGVS:: NC_000017.11:g.28843138_28843139del, NC_000017.10:g.27170156_27170157del

Select item 149143455218.

rs1491434552 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT,TTT,TTTT [Show Flanks]
Chromosome:: 17:28770569 (GRCh38)
17:27097588 (GRCh37)
Canonical SPDI:: NC_000017.11:28770569:T:TT,NC_000017.11:28770569:T:TTT,NC_000017.11:28770569:T:TTTT,NC_000017.11:28770569:T:TTTTT
Gene:: FAM222B (Varview), LOC124903965 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.28770570dup, NC_000017.11:g.28770570_28770571insTT, NC_000017.11:g.28770570_28770571insTTT, NC_000017.11:g.28770570_28770571insTTTT, NC_000017.10:g.27097588dup, NC_000017.10:g.27097588_27097589insTT, NC_000017.10:g.27097588_27097589insTTT, NC_000017.10:g.27097588_27097589insTTTT

Select item 149142565819.

rs1491425658 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:28789079 (GRCh38)
17:27116097 (GRCh37)
Canonical SPDI:: NC_000017.11:28789078:CA:
Gene:: FAM222B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000017.11:g.28789079_28789080del, NC_000017.10:g.27116097_27116098del

Select item 149141947220.

rs1491419472 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:28833612 (GRCh38)
17:27160630 (GRCh37)
Canonical SPDI:: NC_000017.11:28833611:CA:
Gene:: FAM222B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00506/60 (ALFA)
-=0.00339/95 (TOMMO)
HGVS:: NC_000017.11:g.28833612_28833613del, NC_000017.10:g.27160630_27160631del

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