SNP Links for Gene (Select 84077) - SNP

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Select item 14915373891.

rs1491537389 has merged into rs58844982 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 3:14686211 (GRCh38)
3:14727718 (GRCh37)
Canonical SPDI:: NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:14686193:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: C3orf20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
-=0.378/1893 (1000Genomes)
HGVS:: NC_000003.12:g.14686195TG[8], NC_000003.12:g.14686195TG[10], NC_000003.12:g.14686195TG[11], NC_000003.12:g.14686195TG[12], NC_000003.12:g.14686195TG[13], NC_000003.12:g.14686195TG[14], NC_000003.12:g.14686195TG[15], NC_000003.12:g.14686195TG[16], NC_000003.12:g.14686195TG[17], NC_000003.12:g.14686195TG[18], NC_000003.12:g.14686195TG[19], NC_000003.12:g.14686195TG[20], NC_000003.12:g.14686195TG[21], NC_000003.12:g.14686195TG[22], NC_000003.12:g.14686195TG[23], NC_000003.12:g.14686195TG[24], NC_000003.12:g.14686195TG[25], NC_000003.11:g.14727702TG[8], NC_000003.11:g.14727702TG[10], NC_000003.11:g.14727702TG[11], NC_000003.11:g.14727702TG[12], NC_000003.11:g.14727702TG[13], NC_000003.11:g.14727702TG[14], NC_000003.11:g.14727702TG[15], NC_000003.11:g.14727702TG[16], NC_000003.11:g.14727702TG[17], NC_000003.11:g.14727702TG[18], NC_000003.11:g.14727702TG[19], NC_000003.11:g.14727702TG[20], NC_000003.11:g.14727702TG[21], NC_000003.11:g.14727702TG[22], NC_000003.11:g.14727702TG[23], NC_000003.11:g.14727702TG[24], NC_000003.11:g.14727702TG[25]

Select item 14915102322.

rs1491510232 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:14738816 (GRCh38)
3:14780324 (GRCh37)
Canonical SPDI:: NC_000003.12:14738816::A
Gene:: C3orf20 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.14738816_14738817insA, NC_000003.11:g.14780323_14780324insA

Select item 14914777753.

rs1491477775 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 3:14709183 (GRCh38)
3:14750691 (GRCh37)
Canonical SPDI:: NC_000003.12:14709183:GGGG:GGGGGG
Gene:: C3orf20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
GG=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.14709186_14709187dup, NC_000003.11:g.14750693_14750694dup

Select item 14914777374.

rs1491477737 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:14697715 (GRCh38)
3:14739222 (GRCh37)
Canonical SPDI:: NC_000003.12:14697714:CT:
Gene:: C3orf20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0016/6 (ALSPAC)
-=0.0016/6 (TWINSUK)
HGVS:: NC_000003.12:g.14697715_14697716del, NC_000003.11:g.14739222_14739223del

Select item 14913919485.

rs1491391948 has merged into rs34407504 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:14738644 (GRCh38)
3:14780151 (GRCh37)
Canonical SPDI:: NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738630:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C3orf20 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.14738644_14738652del, NC_000003.12:g.14738645_14738652del, NC_000003.12:g.14738646_14738652del, NC_000003.12:g.14738647_14738652del, NC_000003.12:g.14738648_14738652del, NC_000003.12:g.14738649_14738652del, NC_000003.12:g.14738650_14738652del, NC_000003.12:g.14738651_14738652del, NC_000003.12:g.14738652del, NC_000003.12:g.14738652dup, NC_000003.12:g.14738651_14738652dup, NC_000003.12:g.14738650_14738652dup, NC_000003.12:g.14738649_14738652dup, NC_000003.12:g.14738648_14738652dup, NC_000003.12:g.14738647_14738652dup, NC_000003.12:g.14738644_14738652dup, NC_000003.12:g.14738643_14738652dup, NC_000003.12:g.14738633_14738652dup, NC_000003.11:g.14780151_14780159del, NC_000003.11:g.14780152_14780159del, NC_000003.11:g.14780153_14780159del, NC_000003.11:g.14780154_14780159del, NC_000003.11:g.14780155_14780159del, NC_000003.11:g.14780156_14780159del, NC_000003.11:g.14780157_14780159del, NC_000003.11:g.14780158_14780159del, NC_000003.11:g.14780159del, NC_000003.11:g.14780159dup, NC_000003.11:g.14780158_14780159dup, NC_000003.11:g.14780157_14780159dup, NC_000003.11:g.14780156_14780159dup, NC_000003.11:g.14780155_14780159dup, NC_000003.11:g.14780154_14780159dup, NC_000003.11:g.14780151_14780159dup, NC_000003.11:g.14780150_14780159dup, NC_000003.11:g.14780140_14780159dup

Select item 14913052516.

rs1491305251 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:14738631 (GRCh38)
3:14780139 (GRCh37)
Canonical SPDI:: NC_000003.12:14738631::C
Gene:: C3orf20 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.14738631_14738632insC, NC_000003.11:g.14780138_14780139insC

Select item 14913043617.

rs1491304361 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:14709183 (GRCh38)
3:14750690 (GRCh37)
Canonical SPDI:: NC_000003.12:14709182:TG:
Gene:: C3orf20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.14709183_14709184del, NC_000003.11:g.14750690_14750691del

Select item 14912901338.

rs1491290133 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGTGTGTGTG,GTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 3:14686193 (GRCh38)
3:14727701 (GRCh37)
Canonical SPDI:: NC_000003.12:14686193:G:GGTGTGTGTGTGTG,NC_000003.12:14686193:G:GGTGTGTGTGTGTGTG
Gene:: C3orf20 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.14686194_14686195insGTGTGTGTGTGTG, NC_000003.12:g.14686194_14686195insGTGTGTGTGTGTGTG, NC_000003.11:g.14727701_14727702insGTGTGTGTGTGTG, NC_000003.11:g.14727701_14727702insGTGTGTGTGTGTGTG

Select item 14912505799.

rs1491250579 has merged into rs71038433 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:14738823 (GRCh38)
3:14780330 (GRCh37)
Canonical SPDI:: NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14738815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C3orf20 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.14738823_14738835del, NC_000003.12:g.14738831_14738835del, NC_000003.12:g.14738832_14738835del, NC_000003.12:g.14738833_14738835del, NC_000003.12:g.14738834_14738835del, NC_000003.12:g.14738835del, NC_000003.12:g.14738835dup, NC_000003.12:g.14738834_14738835dup, NC_000003.12:g.14738833_14738835dup, NC_000003.12:g.14738832_14738835dup, NC_000003.12:g.14738831_14738835dup, NC_000003.12:g.14738830_14738835dup, NC_000003.12:g.14738829_14738835dup, NC_000003.12:g.14738828_14738835dup, NC_000003.12:g.14738827_14738835dup, NC_000003.12:g.14738825_14738835dup, NC_000003.12:g.14738824_14738835dup, NC_000003.12:g.14738822_14738835dup, NC_000003.12:g.14738821_14738835dup, NC_000003.11:g.14780330_14780342del, NC_000003.11:g.14780338_14780342del, NC_000003.11:g.14780339_14780342del, NC_000003.11:g.14780340_14780342del, NC_000003.11:g.14780341_14780342del, NC_000003.11:g.14780342del, NC_000003.11:g.14780342dup, NC_000003.11:g.14780341_14780342dup, NC_000003.11:g.14780340_14780342dup, NC_000003.11:g.14780339_14780342dup, NC_000003.11:g.14780338_14780342dup, NC_000003.11:g.14780337_14780342dup, NC_000003.11:g.14780336_14780342dup, NC_000003.11:g.14780335_14780342dup, NC_000003.11:g.14780334_14780342dup, NC_000003.11:g.14780332_14780342dup, NC_000003.11:g.14780331_14780342dup, NC_000003.11:g.14780329_14780342dup, NC_000003.11:g.14780328_14780342dup

Select item 149121261910.

rs1491212619 has merged into rs35824281 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 3:14696127 (GRCh38)
3:14737634 (GRCh37)
Canonical SPDI:: NC_000003.12:14696119:TTTTTTTTTTTT:TTTTTTT,NC_000003.12:14696119:TTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:14696119:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:14696119:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:14696119:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:14696119:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:14696119:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: C3orf20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.4532/1534 (1000Genomes)
HGVS:: NC_000003.12:g.14696127_14696131del, NC_000003.12:g.14696130_14696131del, NC_000003.12:g.14696131del, NC_000003.12:g.14696131dup, NC_000003.12:g.14696130_14696131dup, NC_000003.12:g.14696129_14696131dup, NC_000003.12:g.14696126_14696131dup, NC_000003.11:g.14737634_14737638del, NC_000003.11:g.14737637_14737638del, NC_000003.11:g.14737638del, NC_000003.11:g.14737638dup, NC_000003.11:g.14737637_14737638dup, NC_000003.11:g.14737636_14737638dup, NC_000003.11:g.14737633_14737638dup

Select item 149119690111.

rs1491196901 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:14717336 (GRCh38)
3:14758843 (GRCh37)
Canonical SPDI:: NC_000003.12:14717333:AGAG:AG
Gene:: C3orf20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.14717334AG[1], NC_000003.11:g.14758841AG[1]

Select item 149111422812.

rs1491114228 has merged into rs201794636 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGCGCGC>-,GC,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGCGC [Show Flanks]
Chromosome:: 3:14712174 (GRCh38)
3:14753681 (GRCh37)
Canonical SPDI:: NC_000003.12:14712172:CGCGCGCGCGC:C,NC_000003.12:14712172:CGCGCGCGCGC:CGC,NC_000003.12:14712172:CGCGCGCGCGC:CGCGC,NC_000003.12:14712172:CGCGCGCGCGC:CGCGCGC,NC_000003.12:14712172:CGCGCGCGCGC:CGCGCGCGC,NC_000003.12:14712172:CGCGCGCGCGC:CGCGCGCGCGCGC
Gene:: C3orf20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
-=0.24364/939 (ALSPAC)
HGVS:: NC_000003.12:g.14712174_14712183del, NC_000003.12:g.14712174GC[1], NC_000003.12:g.14712174GC[2], NC_000003.12:g.14712174GC[3], NC_000003.12:g.14712174GC[4], NC_000003.12:g.14712174GC[6], NC_000003.11:g.14753681_14753690del, NC_000003.11:g.14753681GC[1], NC_000003.11:g.14753681GC[2], NC_000003.11:g.14753681GC[3], NC_000003.11:g.14753681GC[4], NC_000003.11:g.14753681GC[6]

Select item 149109403313.

rs1491094033 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 3:14712173 (GRCh38)
3:14753681 (GRCh37)
Canonical SPDI:: NC_000003.12:14712173:G:GTG
Gene:: C3orf20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTG=0./0 (ALFA)
GT=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.14712174_14712175insTG, NC_000003.11:g.14753681_14753682insTG

Select item 149108191014.

rs1491081910 has merged into rs35932310 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 3:14750003 (GRCh38)
3:14791510 (GRCh37)
Canonical SPDI:: NC_000003.12:14749996:AAAAAAAAAA:AAAAAA,NC_000003.12:14749996:AAAAAAAAAA:AAAAAAAA,NC_000003.12:14749996:AAAAAAAAAA:AAAAAAAAA,NC_000003.12:14749996:AAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:14749996:AAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:14749996:AAAAAAAAAA:AAAAAAAAAAAAA
Gene:: C3orf20 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AA=0.17736/105 (NorthernSweden)
AA=0.275/11 (GENOME_DK)
HGVS:: NC_000003.12:g.14750003_14750006del, NC_000003.12:g.14750005_14750006del, NC_000003.12:g.14750006del, NC_000003.12:g.14750006dup, NC_000003.12:g.14750005_14750006dup, NC_000003.12:g.14750004_14750006dup, NC_000003.11:g.14791510_14791513del, NC_000003.11:g.14791512_14791513del, NC_000003.11:g.14791513del, NC_000003.11:g.14791513dup, NC_000003.11:g.14791512_14791513dup, NC_000003.11:g.14791511_14791513dup

Select item 149107883715.

rs1491078837 [Homo sapiens]

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

Select item 149106564316.

rs1491065643 has merged into rs35979290 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:14688538 (GRCh38)
3:14730045 (GRCh37)
Canonical SPDI:: NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14688529:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C3orf20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.14688538_14688546del, NC_000003.12:g.14688539_14688546del, NC_000003.12:g.14688541_14688546del, NC_000003.12:g.14688543_14688546del, NC_000003.12:g.14688544_14688546del, NC_000003.12:g.14688545_14688546del, NC_000003.12:g.14688546del, NC_000003.12:g.14688546dup, NC_000003.12:g.14688545_14688546dup, NC_000003.12:g.14688544_14688546dup, NC_000003.12:g.14688543_14688546dup, NC_000003.12:g.14688542_14688546dup, NC_000003.12:g.14688539_14688546dup, NC_000003.12:g.14688538_14688546dup, NC_000003.12:g.14688537_14688546dup, NC_000003.12:g.14688536_14688546dup, NC_000003.12:g.14688535_14688546dup, NC_000003.12:g.14688534_14688546dup, NC_000003.12:g.14688533_14688546dup, NC_000003.12:g.14688532_14688546dup, NC_000003.12:g.14688531_14688546dup, NC_000003.12:g.14688530_14688546dup, NC_000003.12:g.14688546_14688547insAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.14688546_14688547insAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.14688546_14688547insAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.14688546_14688547insAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.14688546_14688547insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.14730045_14730053del, NC_000003.11:g.14730046_14730053del, NC_000003.11:g.14730048_14730053del, NC_000003.11:g.14730050_14730053del, NC_000003.11:g.14730051_14730053del, NC_000003.11:g.14730052_14730053del, NC_000003.11:g.14730053del, NC_000003.11:g.14730053dup, NC_000003.11:g.14730052_14730053dup, NC_000003.11:g.14730051_14730053dup, NC_000003.11:g.14730050_14730053dup, NC_000003.11:g.14730049_14730053dup, NC_000003.11:g.14730046_14730053dup, NC_000003.11:g.14730045_14730053dup, NC_000003.11:g.14730044_14730053dup, NC_000003.11:g.14730043_14730053dup, NC_000003.11:g.14730042_14730053dup, NC_000003.11:g.14730041_14730053dup, NC_000003.11:g.14730040_14730053dup, NC_000003.11:g.14730039_14730053dup, NC_000003.11:g.14730038_14730053dup, NC_000003.11:g.14730037_14730053dup, NC_000003.11:g.14730053_14730054insAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.14730053_14730054insAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.14730053_14730054insAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.14730053_14730054insAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.14730053_14730054insAAAAAAAAAAAAAAAAAAAAAAA

Select item 149103165217.

rs1491031652 has merged into rs1233005428 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 3:14685504 (GRCh38)
3:14727011 (GRCh37)
Canonical SPDI:: NC_000003.12:14685493:GTGTGTGTGTGTGTGTGT:GTGTGTGTGT,NC_000003.12:14685493:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000003.12:14685493:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:14685493:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:14685493:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:14685493:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT
Gene:: C3orf20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
GT=0.000179/3 (TOMMO)
HGVS:: NC_000003.12:g.14685494GT[5], NC_000003.12:g.14685494GT[6], NC_000003.12:g.14685494GT[7], NC_000003.12:g.14685494GT[8], NC_000003.12:g.14685494GT[10], NC_000003.12:g.14685494GT[11], NC_000003.11:g.14727001GT[5], NC_000003.11:g.14727001GT[6], NC_000003.11:g.14727001GT[7], NC_000003.11:g.14727001GT[8], NC_000003.11:g.14727001GT[10], NC_000003.11:g.14727001GT[11]

Select item 149091198918.

rs1490911989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:14751932 (GRCh38)
3:14793439 (GRCh37)
Canonical SPDI:: NC_000003.12:14751931:A:G
Gene:: C3orf20 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.14751932A>G, NC_000003.11:g.14793439A>G

Select item 149089632419.

rs1490896324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:14732120 (GRCh38)
3:14773627 (GRCh37)
Canonical SPDI:: NC_000003.12:14732119:G:A
Gene:: C3orf20 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.14732120G>A, NC_000003.11:g.14773627G>A

Select item 149081285120.

rs1490812851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:14673667 (GRCh38)
3:14715174 (GRCh37)
Canonical SPDI:: NC_000003.12:14673666:T:G
Gene:: C3orf20 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.14673667T>G, NC_000003.11:g.14715174T>G, NG_046773.1:g.26922T>G

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