SNP Links for Gene (Select 5992) - SNP

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Select item 14915778951.

rs1491577895 has merged into rs60254417 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGGG [Show Flanks]
Chromosome:: 12:106762866 (GRCh38)
12:107156644 (GRCh37)
Canonical SPDI:: NC_000012.12:106762856:GGGGGGGGGGGGG:GGGGGGGGG,NC_000012.12:106762856:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000012.12:106762856:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000012.12:106762856:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000012.12:106762856:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000012.12:106762856:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000012.12:106762856:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000012.12:106762856:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000012.12:106762856:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000012.12:106762856:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000012.12:g.106762866_106762869del, NC_000012.12:g.106762867_106762869del, NC_000012.12:g.106762868_106762869del, NC_000012.12:g.106762869del, NC_000012.12:g.106762869dup, NC_000012.12:g.106762868_106762869dup, NC_000012.12:g.106762867_106762869dup, NC_000012.12:g.106762866_106762869dup, NC_000012.12:g.106762865_106762869dup, NC_000012.12:g.106762863_106762869dup, NC_000012.11:g.107156644_107156647del, NC_000012.11:g.107156645_107156647del, NC_000012.11:g.107156646_107156647del, NC_000012.11:g.107156647del, NC_000012.11:g.107156647dup, NC_000012.11:g.107156646_107156647dup, NC_000012.11:g.107156645_107156647dup, NC_000012.11:g.107156644_107156647dup, NC_000012.11:g.107156643_107156647dup, NC_000012.11:g.107156641_107156647dup, NG_047074.1:g.184960_184963del, NG_047074.1:g.184961_184963del, NG_047074.1:g.184962_184963del, NG_047074.1:g.184963del, NG_047074.1:g.184963dup, NG_047074.1:g.184962_184963dup, NG_047074.1:g.184961_184963dup, NG_047074.1:g.184960_184963dup, NG_047074.1:g.184959_184963dup, NG_047074.1:g.184957_184963dup

Select item 14915351822.

rs1491535182 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:106686840 (GRCh38)
12:107080619 (GRCh37)
Canonical SPDI:: NC_000012.12:106686840::C
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.106686840_106686841insC, NC_000012.11:g.107080618_107080619insC, NG_047074.1:g.108934_108935insC

Select item 14915300343.

rs1491530034 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:106738634 (GRCh38)
12:107132412 (GRCh37)
Canonical SPDI:: NC_000012.12:106738631:ATAT:AT
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
HGVS:: NC_000012.12:g.106738632AT[1], NC_000012.11:g.107132410AT[1], NG_047074.1:g.160726AT[1]

Select item 14914995594.

rs1491499559 [Homo sapiens]

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

Select item 14914879105.

rs1491487910 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:106665817 (GRCh38)
12:107059595 (GRCh37)
Canonical SPDI:: NC_000012.12:106665815:ACA:A
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00003/4 (GnomAD)
-=0.000034/9 (TOPMED)
-=0.000468/3 (1000Genomes)
HGVS:: NC_000012.12:g.106665817_106665818del, NC_000012.11:g.107059595_107059596del, NG_047074.1:g.87911_87912del

Select item 14914789946.

rs1491478994 has merged into rs1171240457 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGGG [Show Flanks]
Chromosome:: 12:106669839 (GRCh38)
12:107063617 (GRCh37)
Canonical SPDI:: NC_000012.12:106669836:GGGG:GG,NC_000012.12:106669836:GGGG:GGGGGG
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0.00006/1 (ALFA)
HGVS:: NC_000012.12:g.106669839_106669840del, NC_000012.12:g.106669839_106669840dup, NC_000012.11:g.107063617_107063618del, NC_000012.11:g.107063617_107063618dup, NG_047074.1:g.91933_91934del, NG_047074.1:g.91933_91934dup

Select item 14914463437.

rs1491446343 has merged into rs1163891542 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:106604126 (GRCh38)
12:106997904 (GRCh37)
Canonical SPDI:: NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106604115:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.106604126_106604137del, NC_000012.12:g.106604128_106604137del, NC_000012.12:g.106604130_106604137del, NC_000012.12:g.106604131_106604137del, NC_000012.12:g.106604132_106604137del, NC_000012.12:g.106604133_106604137del, NC_000012.12:g.106604134_106604137del, NC_000012.12:g.106604135_106604137del, NC_000012.12:g.106604136_106604137del, NC_000012.12:g.106604137del, NC_000012.12:g.106604137dup, NC_000012.12:g.106604136_106604137dup, NC_000012.12:g.106604135_106604137dup, NC_000012.12:g.106604134_106604137dup, NC_000012.12:g.106604133_106604137dup, NC_000012.12:g.106604132_106604137dup, NC_000012.12:g.106604130_106604137dup, NC_000012.12:g.106604129_106604137dup, NC_000012.12:g.106604126_106604137dup, NC_000012.11:g.106997904_106997915del, NC_000012.11:g.106997906_106997915del, NC_000012.11:g.106997908_106997915del, NC_000012.11:g.106997909_106997915del, NC_000012.11:g.106997910_106997915del, NC_000012.11:g.106997911_106997915del, NC_000012.11:g.106997912_106997915del, NC_000012.11:g.106997913_106997915del, NC_000012.11:g.106997914_106997915del, NC_000012.11:g.106997915del, NC_000012.11:g.106997915dup, NC_000012.11:g.106997914_106997915dup, NC_000012.11:g.106997913_106997915dup, NC_000012.11:g.106997912_106997915dup, NC_000012.11:g.106997911_106997915dup, NC_000012.11:g.106997910_106997915dup, NC_000012.11:g.106997908_106997915dup, NC_000012.11:g.106997907_106997915dup, NC_000012.11:g.106997904_106997915dup, NG_047074.1:g.26220_26231del, NG_047074.1:g.26222_26231del, NG_047074.1:g.26224_26231del, NG_047074.1:g.26225_26231del, NG_047074.1:g.26226_26231del, NG_047074.1:g.26227_26231del, NG_047074.1:g.26228_26231del, NG_047074.1:g.26229_26231del, NG_047074.1:g.26230_26231del, NG_047074.1:g.26231del, NG_047074.1:g.26231dup, NG_047074.1:g.26230_26231dup, NG_047074.1:g.26229_26231dup, NG_047074.1:g.26228_26231dup, NG_047074.1:g.26227_26231dup, NG_047074.1:g.26226_26231dup, NG_047074.1:g.26224_26231dup, NG_047074.1:g.26223_26231dup, NG_047074.1:g.26220_26231dup

Select item 14914205778.

rs1491420577 [Homo sapiens]

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

Select item 14913736849.

rs1491373684 has merged into rs55993073 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:106608791 (GRCh38)
12:107002569 (GRCh37)
Canonical SPDI:: NC_000012.12:106608780:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:106608780:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:106608780:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:106608780:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:106608780:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:106608780:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:106608780:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:106608780:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:106608780:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.07949/238 (1000Genomes)
-=0.23411/140 (NorthernSweden)
-=0.28263/1048 (TWINSUK)
-=0.28775/1109 (ALSPAC)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000012.12:g.106608791_106608794del, NC_000012.12:g.106608792_106608794del, NC_000012.12:g.106608793_106608794del, NC_000012.12:g.106608794del, NC_000012.12:g.106608794dup, NC_000012.12:g.106608793_106608794dup, NC_000012.12:g.106608792_106608794dup, NC_000012.12:g.106608791_106608794dup, NC_000012.12:g.106608784_106608794dup, NC_000012.11:g.107002569_107002572del, NC_000012.11:g.107002570_107002572del, NC_000012.11:g.107002571_107002572del, NC_000012.11:g.107002572del, NC_000012.11:g.107002572dup, NC_000012.11:g.107002571_107002572dup, NC_000012.11:g.107002570_107002572dup, NC_000012.11:g.107002569_107002572dup, NC_000012.11:g.107002562_107002572dup, NG_047074.1:g.30885_30888del, NG_047074.1:g.30886_30888del, NG_047074.1:g.30887_30888del, NG_047074.1:g.30888del, NG_047074.1:g.30888dup, NG_047074.1:g.30887_30888dup, NG_047074.1:g.30886_30888dup, NG_047074.1:g.30885_30888dup, NG_047074.1:g.30878_30888dup

Select item 149135942110.

rs1491359421 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:106610237 (GRCh38)
12:107004015 (GRCh37)
Canonical SPDI:: NC_000012.12:106610236:CA:
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0011/13 (ALFA)
HGVS:: NC_000012.12:g.106610237_106610238del, NC_000012.11:g.107004015_107004016del, NG_047074.1:g.32331_32332del

Select item 149127148911.

rs1491271489 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:106604116 (GRCh38)
12:106997895 (GRCh37)
Canonical SPDI:: NC_000012.12:106604116::C
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00017/2 (ALFA)
HGVS:: NC_000012.12:g.106604116_106604117insC, NC_000012.11:g.106997894_106997895insC, NG_047074.1:g.26210_26211insC

Select item 149126686912.

rs1491266869 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:106737162 (GRCh38)
12:107130940 (GRCh37)
Canonical SPDI:: NC_000012.12:106737161:GT:
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.106737162_106737163del, NC_000012.11:g.107130940_107130941del, NG_047074.1:g.159256_159257del

Select item 149123289213.

rs1491232892 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:106738632 (GRCh38)
12:107132411 (GRCh37)
Canonical SPDI:: NC_000012.12:106738632:T:TT
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000098/26 (TOPMED)
T=0.0001/14 (GnomAD)
HGVS:: NC_000012.12:g.106738633dup, NC_000012.11:g.107132411dup, NG_047074.1:g.160727dup

Select item 149122952614.

rs1491229526 has merged into rs371927014 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATATAT,ATATATATCTATAT,ATATCTATAT,ATATCTATATCTATAT,ATATCTATATCTATATCTATAT,ATATCTATATCTATATCTATATCTATAT,ATATCTATATCTATATCTATATCTATATCTATCTATAT,ATATCTATATCTATATCTATATCTATATCTATCTATATCTATAT,ATATCTATATCTATATCTATATCTATCTATAT,ATATCTATATCTATATCTATATCTATCTATATCTATAT,ATATCTATATCTATATCTATCTATAT,ATATCTATATCTATATCTATCTATATCTATAT,ATATCTATATCTATATCTATCTATATCTATATCTATAT,ATATCTATATCTATCTATAT,ATATCTATATCTATCTATATAT,ATATCTATATCTATCTATATATCTATAT,ATATCTATATCTATCTATATATCTATATCTATAT,ATATCTATATCTATCTATATATCTATATCTATATCTATAT,ATATCTATATCTATCTATATCTATAT,ATATCTATATCTATCTATATCTATATCTATAT,ATATCTATATCTATCTATATCTATATCTATATCTATAT,ATATCTATCTATAT,ATATCTATCTATATAT,ATATCTATCTATATATCTATAT,ATATCTATCTATATATCTATATCTATAT,ATATCTATCTATATCTATAT,ATATCTATCTATATCTATATCTATAT,ATATCTATCTATATCTATATCTATATCTATAT,ATATCTATCTATATCTATATCTATATCTATATCTATAT [Show Flanks]
Chromosome:: 12:106641969 (GRCh38)
12:107035747 (GRCh37)
Canonical SPDI:: NC_000012.12:106641967:TAT:T,NC_000012.12:106641967:TAT:TATAT,NC_000012.12:106641967:TAT:TATATATAT,NC_000012.12:106641967:TAT:TATATATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATATCTATATCTATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATATCTATATCTATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATATCTATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATATCTATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATCTATATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATATCTATATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATCTATATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATCTATAT,NC_000012.12:106641967:TAT:TATATCTATCTATATAT,NC_000012.12:106641967:TAT:TATATCTATCTATATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATCTATATATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATCTATATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATCTATATCTATATCTATATCTATAT,NC_000012.12:106641967:TAT:TATATCTATCTATATCTATATCTATATCTATATCTATAT
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
TATATCTATCTA=0.00667/4 (NorthernSweden)
HGVS:: NC_000012.12:g.106641969_106641970del, NC_000012.12:g.106641969_106641970dup, NC_000012.12:g.106641969AT[4], NC_000012.12:g.106641968_106641970TA[4]TCTATAT[1], NC_000012.12:g.106641968_106641970TA[2]TCTATAT[1], NC_000012.12:g.106641968_106641970TATATC[2]TA[2]T[1], NC_000012.12:g.106641968_106641970TATATC[3]TA[2]T[1], NC_000012.12:g.106641968_106641970TATATC[4]TA[2]T[1], NC_000012.12:g.106641968_106641970TATATC[5]TATCTATAT[1], NC_000012.12:g.106641968_106641970TATATC[5]TATCTA[2]TAT[1], NC_000012.12:g.106641968_106641970TATATC[4]TATCTATAT[1], NC_000012.12:g.106641968_106641970TATATC[4]TATCTA[2]TAT[1], NC_000012.12:g.106641968_106641970TATATC[3]TATCTATAT[1], NC_000012.12:g.106641968_106641970TATATC[3]TATCTA[2]TAT[1], NC_000012.12:g.106641968_106641970TATATC[3]TATCTA[3]TAT[1], NC_000012.12:g.106641968_106641970TATATC[2]TATCTATAT[1], NC_000012.12:g.106641968_106641970TATATC[2]TATCTATATAT[1], NC_000012.12:g.106641968_106641970TATATC[2]TATCTATA[2]T[1], NC_000012.12:g.106641968_106641970TATATC[2]TATCTATA[2]TCTATAT[1], NC_000012.12:g.106641968_106641970TATATC[2]TATCTATA[2]TCTATA[2]T[1], NC_000012.12:g.106641968_106641970TATATC[2]TATCTA[2]TAT[1], NC_000012.12:g.106641968_106641970TATATC[2]TATCTA[3]TAT[1], NC_000012.12:g.106641968_106641970TATATC[2]TATCTA[4]TAT[1], NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TAT[1], NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TA[2]T[1], NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TA[2]TCTATAT[1], NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATATC[2]TA[2]T[1], NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATCTATAT[1], NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATCTA[2]TAT[1], NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATCTA[3]TAT[1], NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATCTA[4]TAT[1], NC_000012.11:g.107035747_107035748del, NC_000012.11:g.107035747_107035748dup, NC_000012.11:g.107035747AT[4], NC_000012.11:g.107035746_107035748TA[4]TCTATAT[1], NC_000012.11:g.107035746_107035748TA[2]TCTATAT[1], NC_000012.11:g.107035746_107035748TATATC[2]TA[2]T[1], NC_000012.11:g.107035746_107035748TATATC[3]TA[2]T[1], NC_000012.11:g.107035746_107035748TATATC[4]TA[2]T[1], NC_000012.11:g.107035746_107035748TATATC[5]TATCTATAT[1], NC_000012.11:g.107035746_107035748TATATC[5]TATCTA[2]TAT[1], NC_000012.11:g.107035746_107035748TATATC[4]TATCTATAT[1], NC_000012.11:g.107035746_107035748TATATC[4]TATCTA[2]TAT[1], NC_000012.11:g.107035746_107035748TATATC[3]TATCTATAT[1], NC_000012.11:g.107035746_107035748TATATC[3]TATCTA[2]TAT[1], NC_000012.11:g.107035746_107035748TATATC[3]TATCTA[3]TAT[1], NC_000012.11:g.107035746_107035748TATATC[2]TATCTATAT[1], NC_000012.11:g.107035746_107035748TATATC[2]TATCTATATAT[1], NC_000012.11:g.107035746_107035748TATATC[2]TATCTATA[2]T[1], NC_000012.11:g.107035746_107035748TATATC[2]TATCTATA[2]TCTATAT[1], NC_000012.11:g.107035746_107035748TATATC[2]TATCTATA[2]TCTATA[2]T[1], NC_000012.11:g.107035746_107035748TATATC[2]TATCTA[2]TAT[1], NC_000012.11:g.107035746_107035748TATATC[2]TATCTA[3]TAT[1], NC_000012.11:g.107035746_107035748TATATC[2]TATCTA[4]TAT[1], NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TAT[1], NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TA[2]T[1], NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TA[2]TCTATAT[1], NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATATC[2]TA[2]T[1], NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATCTATAT[1], NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATCTA[2]TAT[1], NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATCTA[3]TAT[1], NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATCTA[4]TAT[1], NG_047074.1:g.64063_64064del, NG_047074.1:g.64063_64064dup, NG_047074.1:g.64063AT[4], NG_047074.1:g.64062_64064TA[4]TCTATAT[1], NG_047074.1:g.64062_64064TA[2]TCTATAT[1], NG_047074.1:g.64062_64064TATATC[2]TA[2]T[1], NG_047074.1:g.64062_64064TATATC[3]TA[2]T[1], NG_047074.1:g.64062_64064TATATC[4]TA[2]T[1], NG_047074.1:g.64062_64064TATATC[5]TATCTATAT[1], NG_047074.1:g.64062_64064TATATC[5]TATCTA[2]TAT[1], NG_047074.1:g.64062_64064TATATC[4]TATCTATAT[1], NG_047074.1:g.64062_64064TATATC[4]TATCTA[2]TAT[1], NG_047074.1:g.64062_64064TATATC[3]TATCTATAT[1], NG_047074.1:g.64062_64064TATATC[3]TATCTA[2]TAT[1], NG_047074.1:g.64062_64064TATATC[3]TATCTA[3]TAT[1], NG_047074.1:g.64062_64064TATATC[2]TATCTATAT[1], NG_047074.1:g.64062_64064TATATC[2]TATCTATATAT[1], NG_047074.1:g.64062_64064TATATC[2]TATCTATA[2]T[1], NG_047074.1:g.64062_64064TATATC[2]TATCTATA[2]TCTATAT[1], NG_047074.1:g.64062_64064TATATC[2]TATCTATA[2]TCTATA[2]T[1], NG_047074.1:g.64062_64064TATATC[2]TATCTA[2]TAT[1], NG_047074.1:g.64062_64064TATATC[2]TATCTA[3]TAT[1], NG_047074.1:g.64062_64064TATATC[2]TATCTA[4]TAT[1], NG_047074.1:g.64062_64064TA[2]TCTA[2]TAT[1], NG_047074.1:g.64062_64064TA[2]TCTA[2]TA[2]T[1], NG_047074.1:g.64062_64064TA[2]TCTA[2]TA[2]TCTATAT[1], NG_047074.1:g.64062_64064TA[2]TCTA[2]TATATC[2]TA[2]T[1], NG_047074.1:g.64062_64064TA[2]TCTA[2]TATCTATAT[1], NG_047074.1:g.64062_64064TA[2]TCTA[2]TATCTA[2]TAT[1], NG_047074.1:g.64062_64064TA[2]TCTA[2]TATCTA[3]TAT[1], NG_047074.1:g.64062_64064TA[2]TCTA[2]TATCTA[4]TAT[1]

Select item 149116106215.

rs1491161062 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:106698807 (GRCh38)
12:107092585 (GRCh37)
Canonical SPDI:: NC_000012.12:106698806:CT:
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.106698807_106698808del, NC_000012.11:g.107092585_107092586del, NG_047074.1:g.120901_120902del

Select item 149115418216.

rs1491154182 has merged into rs556116618 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:106737172 (GRCh38)
12:107130950 (GRCh37)
Canonical SPDI:: NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:106737162:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.106737172_106737202del, NC_000012.12:g.106737175_106737202del, NC_000012.12:g.106737176_106737202del, NC_000012.12:g.106737177_106737202del, NC_000012.12:g.106737178_106737202del, NC_000012.12:g.106737179_106737202del, NC_000012.12:g.106737180_106737202del, NC_000012.12:g.106737181_106737202del, NC_000012.12:g.106737182_106737202del, NC_000012.12:g.106737183_106737202del, NC_000012.12:g.106737184_106737202del, NC_000012.12:g.106737185_106737202del, NC_000012.12:g.106737186_106737202del, NC_000012.12:g.106737187_106737202del, NC_000012.12:g.106737188_106737202del, NC_000012.12:g.106737189_106737202del, NC_000012.12:g.106737190_106737202del, NC_000012.12:g.106737191_106737202del, NC_000012.12:g.106737192_106737202del, NC_000012.12:g.106737193_106737202del, NC_000012.12:g.106737194_106737202del, NC_000012.12:g.106737195_106737202del, NC_000012.12:g.106737196_106737202del, NC_000012.12:g.106737197_106737202del, NC_000012.12:g.106737198_106737202del, NC_000012.12:g.106737199_106737202del, NC_000012.12:g.106737200_106737202del, NC_000012.12:g.106737201_106737202del, NC_000012.12:g.106737202del, NC_000012.12:g.106737202dup, NC_000012.12:g.106737201_106737202dup, NC_000012.12:g.106737200_106737202dup, NC_000012.12:g.106737199_106737202dup, NC_000012.12:g.106737198_106737202dup, NC_000012.12:g.106737197_106737202dup, NC_000012.12:g.106737196_106737202dup, NC_000012.12:g.106737195_106737202dup, NC_000012.12:g.106737194_106737202dup, NC_000012.12:g.106737193_106737202dup, NC_000012.12:g.106737192_106737202dup, NC_000012.12:g.106737191_106737202dup, NC_000012.12:g.106737190_106737202dup, NC_000012.12:g.106737189_106737202dup, NC_000012.12:g.106737188_106737202dup, NC_000012.12:g.106737185_106737202dup, NC_000012.12:g.106737179_106737202dup, NC_000012.12:g.106737178_106737202dup, NC_000012.12:g.106737163_106737202dup, NC_000012.11:g.107130950_107130980del, NC_000012.11:g.107130953_107130980del, NC_000012.11:g.107130954_107130980del, NC_000012.11:g.107130955_107130980del, NC_000012.11:g.107130956_107130980del, NC_000012.11:g.107130957_107130980del, NC_000012.11:g.107130958_107130980del, NC_000012.11:g.107130959_107130980del, NC_000012.11:g.107130960_107130980del, NC_000012.11:g.107130961_107130980del, NC_000012.11:g.107130962_107130980del, NC_000012.11:g.107130963_107130980del, NC_000012.11:g.107130964_107130980del, NC_000012.11:g.107130965_107130980del, NC_000012.11:g.107130966_107130980del, NC_000012.11:g.107130967_107130980del, NC_000012.11:g.107130968_107130980del, NC_000012.11:g.107130969_107130980del, NC_000012.11:g.107130970_107130980del, NC_000012.11:g.107130971_107130980del, NC_000012.11:g.107130972_107130980del, NC_000012.11:g.107130973_107130980del, NC_000012.11:g.107130974_107130980del, NC_000012.11:g.107130975_107130980del, NC_000012.11:g.107130976_107130980del, NC_000012.11:g.107130977_107130980del, NC_000012.11:g.107130978_107130980del, NC_000012.11:g.107130979_107130980del, NC_000012.11:g.107130980del, NC_000012.11:g.107130980dup, NC_000012.11:g.107130979_107130980dup, NC_000012.11:g.107130978_107130980dup, NC_000012.11:g.107130977_107130980dup, NC_000012.11:g.107130976_107130980dup, NC_000012.11:g.107130975_107130980dup, NC_000012.11:g.107130974_107130980dup, NC_000012.11:g.107130973_107130980dup, NC_000012.11:g.107130972_107130980dup, NC_000012.11:g.107130971_107130980dup, NC_000012.11:g.107130970_107130980dup, NC_000012.11:g.107130969_107130980dup, NC_000012.11:g.107130968_107130980dup, NC_000012.11:g.107130967_107130980dup, NC_000012.11:g.107130966_107130980dup, NC_000012.11:g.107130963_107130980dup, NC_000012.11:g.107130957_107130980dup, NC_000012.11:g.107130956_107130980dup, NC_000012.11:g.107130941_107130980dup, NG_047074.1:g.159266_159296del, NG_047074.1:g.159269_159296del, NG_047074.1:g.159270_159296del, NG_047074.1:g.159271_159296del, NG_047074.1:g.159272_159296del, NG_047074.1:g.159273_159296del, NG_047074.1:g.159274_159296del, NG_047074.1:g.159275_159296del, NG_047074.1:g.159276_159296del, NG_047074.1:g.159277_159296del, NG_047074.1:g.159278_159296del, NG_047074.1:g.159279_159296del, NG_047074.1:g.159280_159296del, NG_047074.1:g.159281_159296del, NG_047074.1:g.159282_159296del, NG_047074.1:g.159283_159296del, NG_047074.1:g.159284_159296del, NG_047074.1:g.159285_159296del, NG_047074.1:g.159286_159296del, NG_047074.1:g.159287_159296del, NG_047074.1:g.159288_159296del, NG_047074.1:g.159289_159296del, NG_047074.1:g.159290_159296del, NG_047074.1:g.159291_159296del, NG_047074.1:g.159292_159296del, NG_047074.1:g.159293_159296del, NG_047074.1:g.159294_159296del, NG_047074.1:g.159295_159296del, NG_047074.1:g.159296del, NG_047074.1:g.159296dup, NG_047074.1:g.159295_159296dup, NG_047074.1:g.159294_159296dup, NG_047074.1:g.159293_159296dup, NG_047074.1:g.159292_159296dup, NG_047074.1:g.159291_159296dup, NG_047074.1:g.159290_159296dup, NG_047074.1:g.159289_159296dup, NG_047074.1:g.159288_159296dup, NG_047074.1:g.159287_159296dup, NG_047074.1:g.159286_159296dup, NG_047074.1:g.159285_159296dup, NG_047074.1:g.159284_159296dup, NG_047074.1:g.159283_159296dup, NG_047074.1:g.159282_159296dup, NG_047074.1:g.159279_159296dup, NG_047074.1:g.159273_159296dup, NG_047074.1:g.159272_159296dup, NG_047074.1:g.159257_159296dup

Select item 149110116117.

rs1491101161 [Homo sapiens]

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

Select item 149108225918.

rs1491082259 has merged into rs10710882 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 12:106592215 (GRCh38)
12:106985993 (GRCh37)
Canonical SPDI:: NC_000012.12:106592206:AAAAAAAAAA:AAAAAAAA,NC_000012.12:106592206:AAAAAAAAAA:AAAAAAAAA,NC_000012.12:106592206:AAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:106592206:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.125/27 (Vietnamese)
A=0.156659/287 (Korea1K)
A=0.323333/194 (NorthernSweden)
A=0.34502/1673 (1000Genomes)
A=0.385922/1431 (TWINSUK)
A=0.390304/1747 (Estonian)
A=0.401107/106169 (TOPMED)
A=0.401661/1548 (ALSPAC)
A=0.412826/412 (GoNL)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000012.12:g.106592215_106592216del, NC_000012.12:g.106592216del, NC_000012.12:g.106592216dup, NC_000012.12:g.106592215_106592216dup, NC_000012.11:g.106985993_106985994del, NC_000012.11:g.106985994del, NC_000012.11:g.106985994dup, NC_000012.11:g.106985993_106985994dup, NG_047074.1:g.14309_14310del, NG_047074.1:g.14310del, NG_047074.1:g.14310dup, NG_047074.1:g.14309_14310dup

Select item 149105756319.

rs1491057563 has merged into rs550366505 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 12:106726253 (GRCh38)
12:107120031 (GRCh37)
Canonical SPDI:: NC_000012.12:106726246:AAAAAAAAAAAAAA:AAAAAA,NC_000012.12:106726246:AAAAAAAAAAAAAA:AAAAAAA,NC_000012.12:106726246:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:106726246:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:106726246:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:106726246:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:106726246:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:106726246:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.01505/9 (NorthernSweden)
-=0.04197/208 (1000Genomes)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000012.12:g.106726253_106726260del, NC_000012.12:g.106726254_106726260del, NC_000012.12:g.106726257_106726260del, NC_000012.12:g.106726258_106726260del, NC_000012.12:g.106726259_106726260del, NC_000012.12:g.106726260del, NC_000012.12:g.106726260dup, NC_000012.12:g.106726259_106726260dup, NC_000012.11:g.107120031_107120038del, NC_000012.11:g.107120032_107120038del, NC_000012.11:g.107120035_107120038del, NC_000012.11:g.107120036_107120038del, NC_000012.11:g.107120037_107120038del, NC_000012.11:g.107120038del, NC_000012.11:g.107120038dup, NC_000012.11:g.107120037_107120038dup, NG_047074.1:g.148347_148354del, NG_047074.1:g.148348_148354del, NG_047074.1:g.148351_148354del, NG_047074.1:g.148352_148354del, NG_047074.1:g.148353_148354del, NG_047074.1:g.148354del, NG_047074.1:g.148354dup, NG_047074.1:g.148353_148354dup

Select item 149104385520.

rs1491043855 has merged into rs56006444 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 12:106687201 (GRCh38)
12:107080979 (GRCh37)
Canonical SPDI:: NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: RFX4 (Varview), LOC100287944 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACA=0./0 (ALFA)
-=0.1692/652 (ALSPAC)
HGVS:: NC_000012.12:g.106687183CA[9], NC_000012.12:g.106687183CA[10], NC_000012.12:g.106687183CA[11], NC_000012.12:g.106687183CA[12], NC_000012.12:g.106687183CA[13], NC_000012.12:g.106687183CA[14], NC_000012.12:g.106687183CA[15], NC_000012.12:g.106687183CA[16], NC_000012.12:g.106687183CA[17], NC_000012.12:g.106687183CA[18], NC_000012.12:g.106687183CA[19], NC_000012.12:g.106687183CA[20], NC_000012.12:g.106687183CA[21], NC_000012.12:g.106687183CA[23], NC_000012.12:g.106687183CA[24], NC_000012.12:g.106687183CA[25], NC_000012.12:g.106687183CA[26], NC_000012.12:g.106687183CA[27], NC_000012.12:g.106687183CA[28], NC_000012.11:g.107080961CA[9], NC_000012.11:g.107080961CA[10], NC_000012.11:g.107080961CA[11], NC_000012.11:g.107080961CA[12], NC_000012.11:g.107080961CA[13], NC_000012.11:g.107080961CA[14], NC_000012.11:g.107080961CA[15], NC_000012.11:g.107080961CA[16], NC_000012.11:g.107080961CA[17], NC_000012.11:g.107080961CA[18], NC_000012.11:g.107080961CA[19], NC_000012.11:g.107080961CA[20], NC_000012.11:g.107080961CA[21], NC_000012.11:g.107080961CA[23], NC_000012.11:g.107080961CA[24], NC_000012.11:g.107080961CA[25], NC_000012.11:g.107080961CA[26], NC_000012.11:g.107080961CA[27], NC_000012.11:g.107080961CA[28], NG_047074.1:g.109277CA[9], NG_047074.1:g.109277CA[10], NG_047074.1:g.109277CA[11], NG_047074.1:g.109277CA[12], NG_047074.1:g.109277CA[13], NG_047074.1:g.109277CA[14], NG_047074.1:g.109277CA[15], NG_047074.1:g.109277CA[16], NG_047074.1:g.109277CA[17], NG_047074.1:g.109277CA[18], NG_047074.1:g.109277CA[19], NG_047074.1:g.109277CA[20], NG_047074.1:g.109277CA[21], NG_047074.1:g.109277CA[23], NG_047074.1:g.109277CA[24], NG_047074.1:g.109277CA[25], NG_047074.1:g.109277CA[26], NG_047074.1:g.109277CA[27], NG_047074.1:g.109277CA[28]

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