SNP Links for Nucleotide (Select 325995175) - SNP

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Select item 14915640821.

rs1491564082 has merged into rs76855973 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:45218402 (GRCh38)
12:45612185 (GRCh37)
Canonical SPDI:: NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45218390:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ANO6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.00859/43 (1000Genomes)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000012.12:g.45218402_45218412del, NC_000012.12:g.45218403_45218412del, NC_000012.12:g.45218404_45218412del, NC_000012.12:g.45218405_45218412del, NC_000012.12:g.45218406_45218412del, NC_000012.12:g.45218407_45218412del, NC_000012.12:g.45218408_45218412del, NC_000012.12:g.45218409_45218412del, NC_000012.12:g.45218410_45218412del, NC_000012.12:g.45218411_45218412del, NC_000012.12:g.45218412del, NC_000012.12:g.45218412dup, NC_000012.12:g.45218411_45218412dup, NC_000012.12:g.45218410_45218412dup, NC_000012.12:g.45218409_45218412dup, NC_000012.12:g.45218408_45218412dup, NC_000012.12:g.45218407_45218412dup, NC_000012.12:g.45218406_45218412dup, NC_000012.12:g.45218405_45218412dup, NC_000012.12:g.45218404_45218412dup, NC_000012.12:g.45218403_45218412dup, NC_000012.12:g.45218402_45218412dup, NC_000012.12:g.45218401_45218412dup, NC_000012.12:g.45218400_45218412dup, NC_000012.12:g.45218399_45218412dup, NC_000012.12:g.45218398_45218412dup, NC_000012.12:g.45218397_45218412dup, NC_000012.12:g.45218396_45218412dup, NC_000012.12:g.45218395_45218412dup, NC_000012.12:g.45218393_45218412dup, NC_000012.12:g.45218412_45218413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45612185_45612195del, NC_000012.11:g.45612186_45612195del, NC_000012.11:g.45612187_45612195del, NC_000012.11:g.45612188_45612195del, NC_000012.11:g.45612189_45612195del, NC_000012.11:g.45612190_45612195del, NC_000012.11:g.45612191_45612195del, NC_000012.11:g.45612192_45612195del, NC_000012.11:g.45612193_45612195del, NC_000012.11:g.45612194_45612195del, NC_000012.11:g.45612195del, NC_000012.11:g.45612195dup, NC_000012.11:g.45612194_45612195dup, NC_000012.11:g.45612193_45612195dup, NC_000012.11:g.45612192_45612195dup, NC_000012.11:g.45612191_45612195dup, NC_000012.11:g.45612190_45612195dup, NC_000012.11:g.45612189_45612195dup, NC_000012.11:g.45612188_45612195dup, NC_000012.11:g.45612187_45612195dup, NC_000012.11:g.45612186_45612195dup, NC_000012.11:g.45612185_45612195dup, NC_000012.11:g.45612184_45612195dup, NC_000012.11:g.45612183_45612195dup, NC_000012.11:g.45612182_45612195dup, NC_000012.11:g.45612181_45612195dup, NC_000012.11:g.45612180_45612195dup, NC_000012.11:g.45612179_45612195dup, NC_000012.11:g.45612178_45612195dup, NC_000012.11:g.45612176_45612195dup, NC_000012.11:g.45612195_45612196insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.7416_7426del, NG_028220.1:g.7417_7426del, NG_028220.1:g.7418_7426del, NG_028220.1:g.7419_7426del, NG_028220.1:g.7420_7426del, NG_028220.1:g.7421_7426del, NG_028220.1:g.7422_7426del, NG_028220.1:g.7423_7426del, NG_028220.1:g.7424_7426del, NG_028220.1:g.7425_7426del, NG_028220.1:g.7426del, NG_028220.1:g.7426dup, NG_028220.1:g.7425_7426dup, NG_028220.1:g.7424_7426dup, NG_028220.1:g.7423_7426dup, NG_028220.1:g.7422_7426dup, NG_028220.1:g.7421_7426dup, NG_028220.1:g.7420_7426dup, NG_028220.1:g.7419_7426dup, NG_028220.1:g.7418_7426dup, NG_028220.1:g.7417_7426dup, NG_028220.1:g.7416_7426dup, NG_028220.1:g.7415_7426dup, NG_028220.1:g.7414_7426dup, NG_028220.1:g.7413_7426dup, NG_028220.1:g.7412_7426dup, NG_028220.1:g.7411_7426dup, NG_028220.1:g.7410_7426dup, NG_028220.1:g.7409_7426dup, NG_028220.1:g.7407_7426dup, NG_028220.1:g.7426_7427insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915573412.

rs1491557341 [Homo sapiens]

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

Select item 14915552113.

rs1491555211 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 12:45327242 (GRCh38)
12:45721025 (GRCh37)
Canonical SPDI:: NC_000012.12:45327241:AAAAAAA:AAAAAA,NC_000012.12:45327241:AAAAAAA:AAAAAAAA
Gene:: ANO6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000078/11 (GnomAD)
HGVS:: NC_000012.12:g.45327248del, NC_000012.12:g.45327248dup, NC_000012.11:g.45721031del, NC_000012.11:g.45721031dup, NG_028220.1:g.116262del, NG_028220.1:g.116262dup

Select item 14915379244.

rs1491537924 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:45244416 (GRCh38)
12:45638199 (GRCh37)
Canonical SPDI:: NC_000012.12:45244414:GTG:G
Gene:: ANO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.45244416_45244417del, NC_000012.11:g.45638199_45638200del, NG_028220.1:g.33430_33431del

Select item 14915109445.

rs1491510944 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:45285748 (GRCh38)
12:45679531 (GRCh37)
Canonical SPDI:: NC_000012.12:45285746:AGA:A
Gene:: ANO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.45285748_45285749del, NC_000012.11:g.45679531_45679532del, NG_028220.1:g.74762_74763del

Select item 14914985666.

rs1491498566 has merged into rs58453929 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 12:45438265 (GRCh38)
12:45832048 (GRCh37)
Canonical SPDI:: NC_000012.12:45438251:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000012.12:45438251:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000012.12:45438251:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000012.12:45438251:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000012.12:45438251:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45438251:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45438251:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45438251:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45438251:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45438251:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45438251:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45438251:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45438251:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ANO6 (Varview), LOC105369743 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.125/1 (KOREAN)
TG=0.1721/862 (1000Genomes)
HGVS:: NC_000012.12:g.45438253GT[6], NC_000012.12:g.45438253GT[7], NC_000012.12:g.45438253GT[8], NC_000012.12:g.45438253GT[9], NC_000012.12:g.45438253GT[10], NC_000012.12:g.45438253GT[11], NC_000012.12:g.45438253GT[13], NC_000012.12:g.45438253GT[14], NC_000012.12:g.45438253GT[15], NC_000012.12:g.45438253GT[16], NC_000012.12:g.45438253GT[17], NC_000012.12:g.45438253GT[18], NC_000012.12:g.45438253GT[20], NC_000012.11:g.45832036GT[6], NC_000012.11:g.45832036GT[7], NC_000012.11:g.45832036GT[8], NC_000012.11:g.45832036GT[9], NC_000012.11:g.45832036GT[10], NC_000012.11:g.45832036GT[11], NC_000012.11:g.45832036GT[13], NC_000012.11:g.45832036GT[14], NC_000012.11:g.45832036GT[15], NC_000012.11:g.45832036GT[16], NC_000012.11:g.45832036GT[17], NC_000012.11:g.45832036GT[18], NC_000012.11:g.45832036GT[20], NG_028220.1:g.227267GT[6], NG_028220.1:g.227267GT[7], NG_028220.1:g.227267GT[8], NG_028220.1:g.227267GT[9], NG_028220.1:g.227267GT[10], NG_028220.1:g.227267GT[11], NG_028220.1:g.227267GT[13], NG_028220.1:g.227267GT[14], NG_028220.1:g.227267GT[15], NG_028220.1:g.227267GT[16], NG_028220.1:g.227267GT[17], NG_028220.1:g.227267GT[18], NG_028220.1:g.227267GT[20]

Select item 14914936397.

rs1491493639 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,TG [Show Flanks]
Chromosome:: 12:45244403 (GRCh38)
12:45638187 (GRCh37)
Canonical SPDI:: NC_000012.12:45244403::C,NC_000012.12:45244403::TG
Gene:: ANO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000012.12:g.45244403_45244404insC, NC_000012.12:g.45244403_45244404insTG, NC_000012.11:g.45638186_45638187insC, NC_000012.11:g.45638186_45638187insTG, NG_028220.1:g.33417_33418insC, NG_028220.1:g.33417_33418insTG

Select item 14914833118.

rs1491483311 has merged into rs1218638312 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:45308061 (GRCh38)
12:45701844 (GRCh37)
Canonical SPDI:: NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45308048:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ANO6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.45308061_45308072del, NC_000012.12:g.45308062_45308072del, NC_000012.12:g.45308063_45308072del, NC_000012.12:g.45308064_45308072del, NC_000012.12:g.45308065_45308072del, NC_000012.12:g.45308066_45308072del, NC_000012.12:g.45308067_45308072del, NC_000012.12:g.45308068_45308072del, NC_000012.12:g.45308069_45308072del, NC_000012.12:g.45308070_45308072del, NC_000012.12:g.45308071_45308072del, NC_000012.12:g.45308072del, NC_000012.12:g.45308072dup, NC_000012.12:g.45308071_45308072dup, NC_000012.12:g.45308070_45308072dup, NC_000012.12:g.45308069_45308072dup, NC_000012.12:g.45308068_45308072dup, NC_000012.12:g.45308067_45308072dup, NC_000012.12:g.45308066_45308072dup, NC_000012.12:g.45308065_45308072dup, NC_000012.12:g.45308064_45308072dup, NC_000012.12:g.45308063_45308072dup, NC_000012.12:g.45308062_45308072dup, NC_000012.12:g.45308061_45308072dup, NC_000012.12:g.45308060_45308072dup, NC_000012.12:g.45308059_45308072dup, NC_000012.12:g.45308058_45308072dup, NC_000012.12:g.45308057_45308072dup, NC_000012.12:g.45308056_45308072dup, NC_000012.12:g.45308053_45308072dup, NC_000012.12:g.45308072_45308073insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45308072_45308073insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45308072_45308073insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45701844_45701855del, NC_000012.11:g.45701845_45701855del, NC_000012.11:g.45701846_45701855del, NC_000012.11:g.45701847_45701855del, NC_000012.11:g.45701848_45701855del, NC_000012.11:g.45701849_45701855del, NC_000012.11:g.45701850_45701855del, NC_000012.11:g.45701851_45701855del, NC_000012.11:g.45701852_45701855del, NC_000012.11:g.45701853_45701855del, NC_000012.11:g.45701854_45701855del, NC_000012.11:g.45701855del, NC_000012.11:g.45701855dup, NC_000012.11:g.45701854_45701855dup, NC_000012.11:g.45701853_45701855dup, NC_000012.11:g.45701852_45701855dup, NC_000012.11:g.45701851_45701855dup, NC_000012.11:g.45701850_45701855dup, NC_000012.11:g.45701849_45701855dup, NC_000012.11:g.45701848_45701855dup, NC_000012.11:g.45701847_45701855dup, NC_000012.11:g.45701846_45701855dup, NC_000012.11:g.45701845_45701855dup, NC_000012.11:g.45701844_45701855dup, NC_000012.11:g.45701843_45701855dup, NC_000012.11:g.45701842_45701855dup, NC_000012.11:g.45701841_45701855dup, NC_000012.11:g.45701840_45701855dup, NC_000012.11:g.45701839_45701855dup, NC_000012.11:g.45701836_45701855dup, NC_000012.11:g.45701855_45701856insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45701855_45701856insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45701855_45701856insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.97075_97086del, NG_028220.1:g.97076_97086del, NG_028220.1:g.97077_97086del, NG_028220.1:g.97078_97086del, NG_028220.1:g.97079_97086del, NG_028220.1:g.97080_97086del, NG_028220.1:g.97081_97086del, NG_028220.1:g.97082_97086del, NG_028220.1:g.97083_97086del, NG_028220.1:g.97084_97086del, NG_028220.1:g.97085_97086del, NG_028220.1:g.97086del, NG_028220.1:g.97086dup, NG_028220.1:g.97085_97086dup, NG_028220.1:g.97084_97086dup, NG_028220.1:g.97083_97086dup, NG_028220.1:g.97082_97086dup, NG_028220.1:g.97081_97086dup, NG_028220.1:g.97080_97086dup, NG_028220.1:g.97079_97086dup, NG_028220.1:g.97078_97086dup, NG_028220.1:g.97077_97086dup, NG_028220.1:g.97076_97086dup, NG_028220.1:g.97075_97086dup, NG_028220.1:g.97074_97086dup, NG_028220.1:g.97073_97086dup, NG_028220.1:g.97072_97086dup, NG_028220.1:g.97071_97086dup, NG_028220.1:g.97070_97086dup, NG_028220.1:g.97067_97086dup, NG_028220.1:g.97086_97087insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.97086_97087insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.97086_97087insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914832809.

rs1491483280 has merged into rs990497761 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT [Show Flanks]
Chromosome:: 12:45332288 (GRCh38)
12:45726071 (GRCh37)
Canonical SPDI:: NC_000012.12:45332281:CTCTCTCTCT:CTCTCT,NC_000012.12:45332281:CTCTCTCTCT:CTCTCTCT,NC_000012.12:45332281:CTCTCTCTCT:CTCTCTCTCTCT
Gene:: ANO6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCT=0./0 (ALFA)
HGVS:: NC_000012.12:g.45332282CT[3], NC_000012.12:g.45332282CT[4], NC_000012.12:g.45332282CT[6], NC_000012.11:g.45726065CT[3], NC_000012.11:g.45726065CT[4], NC_000012.11:g.45726065CT[6], NG_028220.1:g.121296CT[3], NG_028220.1:g.121296CT[4], NG_028220.1:g.121296CT[6]

Select item 149147644510.

rs1491476445 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 12:45332334 (GRCh38)
12:45726117 (GRCh37)
Canonical SPDI:: NC_000012.12:45332331:AAAA:AA,NC_000012.12:45332331:AAAA:AAAAAA
Gene:: ANO6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.45332334_45332335del, NC_000012.12:g.45332334_45332335dup, NC_000012.11:g.45726117_45726118del, NC_000012.11:g.45726117_45726118dup, NG_028220.1:g.121348_121349del, NG_028220.1:g.121348_121349dup

Select item 149146891711.

rs1491468917 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:45327241 (GRCh38)
12:45721024 (GRCh37)
Canonical SPDI:: NC_000012.12:45327240:GA:
Gene:: ANO6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.45327241_45327242del, NC_000012.11:g.45721024_45721025del, NG_028220.1:g.116255_116256del

Select item 149142093412.

rs1491420934 has merged into rs138396024 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:45293737 (GRCh38)
12:45687520 (GRCh37)
Canonical SPDI:: NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45293729:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ANO6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000012.12:g.45293737_45293756del, NC_000012.12:g.45293741_45293756del, NC_000012.12:g.45293742_45293756del, NC_000012.12:g.45293743_45293756del, NC_000012.12:g.45293744_45293756del, NC_000012.12:g.45293745_45293756del, NC_000012.12:g.45293746_45293756del, NC_000012.12:g.45293747_45293756del, NC_000012.12:g.45293748_45293756del, NC_000012.12:g.45293749_45293756del, NC_000012.12:g.45293750_45293756del, NC_000012.12:g.45293751_45293756del, NC_000012.12:g.45293752_45293756del, NC_000012.12:g.45293753_45293756del, NC_000012.12:g.45293754_45293756del, NC_000012.12:g.45293755_45293756del, NC_000012.12:g.45293756del, NC_000012.12:g.45293756dup, NC_000012.12:g.45293755_45293756dup, NC_000012.12:g.45293754_45293756dup, NC_000012.12:g.45293753_45293756dup, NC_000012.12:g.45293752_45293756dup, NC_000012.12:g.45293751_45293756dup, NC_000012.12:g.45293750_45293756dup, NC_000012.12:g.45293749_45293756dup, NC_000012.12:g.45293748_45293756dup, NC_000012.12:g.45293747_45293756dup, NC_000012.12:g.45293746_45293756dup, NC_000012.12:g.45293745_45293756dup, NC_000012.12:g.45293744_45293756dup, NC_000012.12:g.45293743_45293756dup, NC_000012.12:g.45293742_45293756dup, NC_000012.12:g.45293741_45293756dup, NC_000012.12:g.45293740_45293756dup, NC_000012.12:g.45293739_45293756dup, NC_000012.12:g.45293738_45293756dup, NC_000012.12:g.45293737_45293756dup, NC_000012.12:g.45293736_45293756dup, NC_000012.12:g.45293735_45293756dup, NC_000012.12:g.45293734_45293756dup, NC_000012.12:g.45293733_45293756dup, NC_000012.12:g.45293756_45293757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45293756_45293757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45293756_45293757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45293756_45293757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45293756_45293757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45687520_45687539del, NC_000012.11:g.45687524_45687539del, NC_000012.11:g.45687525_45687539del, NC_000012.11:g.45687526_45687539del, NC_000012.11:g.45687527_45687539del, NC_000012.11:g.45687528_45687539del, NC_000012.11:g.45687529_45687539del, NC_000012.11:g.45687530_45687539del, NC_000012.11:g.45687531_45687539del, NC_000012.11:g.45687532_45687539del, NC_000012.11:g.45687533_45687539del, NC_000012.11:g.45687534_45687539del, NC_000012.11:g.45687535_45687539del, NC_000012.11:g.45687536_45687539del, NC_000012.11:g.45687537_45687539del, NC_000012.11:g.45687538_45687539del, NC_000012.11:g.45687539del, NC_000012.11:g.45687539dup, NC_000012.11:g.45687538_45687539dup, NC_000012.11:g.45687537_45687539dup, NC_000012.11:g.45687536_45687539dup, NC_000012.11:g.45687535_45687539dup, NC_000012.11:g.45687534_45687539dup, NC_000012.11:g.45687533_45687539dup, NC_000012.11:g.45687532_45687539dup, NC_000012.11:g.45687531_45687539dup, NC_000012.11:g.45687530_45687539dup, NC_000012.11:g.45687529_45687539dup, NC_000012.11:g.45687528_45687539dup, NC_000012.11:g.45687527_45687539dup, NC_000012.11:g.45687526_45687539dup, NC_000012.11:g.45687525_45687539dup, NC_000012.11:g.45687524_45687539dup, NC_000012.11:g.45687523_45687539dup, NC_000012.11:g.45687522_45687539dup, NC_000012.11:g.45687521_45687539dup, NC_000012.11:g.45687520_45687539dup, NC_000012.11:g.45687519_45687539dup, NC_000012.11:g.45687518_45687539dup, NC_000012.11:g.45687517_45687539dup, NC_000012.11:g.45687516_45687539dup, NC_000012.11:g.45687539_45687540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45687539_45687540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45687539_45687540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45687539_45687540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45687539_45687540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.82751_82770del, NG_028220.1:g.82755_82770del, NG_028220.1:g.82756_82770del, NG_028220.1:g.82757_82770del, NG_028220.1:g.82758_82770del, NG_028220.1:g.82759_82770del, NG_028220.1:g.82760_82770del, NG_028220.1:g.82761_82770del, NG_028220.1:g.82762_82770del, NG_028220.1:g.82763_82770del, NG_028220.1:g.82764_82770del, NG_028220.1:g.82765_82770del, NG_028220.1:g.82766_82770del, NG_028220.1:g.82767_82770del, NG_028220.1:g.82768_82770del, NG_028220.1:g.82769_82770del, NG_028220.1:g.82770del, NG_028220.1:g.82770dup, NG_028220.1:g.82769_82770dup, NG_028220.1:g.82768_82770dup, NG_028220.1:g.82767_82770dup, NG_028220.1:g.82766_82770dup, NG_028220.1:g.82765_82770dup, NG_028220.1:g.82764_82770dup, NG_028220.1:g.82763_82770dup, NG_028220.1:g.82762_82770dup, NG_028220.1:g.82761_82770dup, NG_028220.1:g.82760_82770dup, NG_028220.1:g.82759_82770dup, NG_028220.1:g.82758_82770dup, NG_028220.1:g.82757_82770dup, NG_028220.1:g.82756_82770dup, NG_028220.1:g.82755_82770dup, NG_028220.1:g.82754_82770dup, NG_028220.1:g.82753_82770dup, NG_028220.1:g.82752_82770dup, NG_028220.1:g.82751_82770dup, NG_028220.1:g.82750_82770dup, NG_028220.1:g.82749_82770dup, NG_028220.1:g.82748_82770dup, NG_028220.1:g.82747_82770dup, NG_028220.1:g.82770_82771insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.82770_82771insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.82770_82771insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.82770_82771insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.82770_82771insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149141583813.

rs1491415838 has merged into rs551517877 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:45255827 (GRCh38)
12:45649610 (GRCh37)
Canonical SPDI:: NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45255818:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ANO6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.4497/2252 (1000Genomes)
HGVS:: NC_000012.12:g.45255827_45255838del, NC_000012.12:g.45255830_45255838del, NC_000012.12:g.45255831_45255838del, NC_000012.12:g.45255832_45255838del, NC_000012.12:g.45255833_45255838del, NC_000012.12:g.45255834_45255838del, NC_000012.12:g.45255835_45255838del, NC_000012.12:g.45255836_45255838del, NC_000012.12:g.45255837_45255838del, NC_000012.12:g.45255838del, NC_000012.12:g.45255838dup, NC_000012.12:g.45255837_45255838dup, NC_000012.12:g.45255836_45255838dup, NC_000012.12:g.45255835_45255838dup, NC_000012.12:g.45255834_45255838dup, NC_000012.12:g.45255833_45255838dup, NC_000012.12:g.45255832_45255838dup, NC_000012.12:g.45255831_45255838dup, NC_000012.12:g.45255830_45255838dup, NC_000012.12:g.45255829_45255838dup, NC_000012.12:g.45255828_45255838dup, NC_000012.12:g.45255827_45255838dup, NC_000012.12:g.45255826_45255838dup, NC_000012.12:g.45255825_45255838dup, NC_000012.12:g.45255824_45255838dup, NC_000012.12:g.45255823_45255838dup, NC_000012.12:g.45255822_45255838dup, NC_000012.12:g.45255821_45255838dup, NC_000012.12:g.45255820_45255838dup, NC_000012.12:g.45255819_45255838dup, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.45255838_45255839insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649610_45649621del, NC_000012.11:g.45649613_45649621del, NC_000012.11:g.45649614_45649621del, NC_000012.11:g.45649615_45649621del, NC_000012.11:g.45649616_45649621del, NC_000012.11:g.45649617_45649621del, NC_000012.11:g.45649618_45649621del, NC_000012.11:g.45649619_45649621del, NC_000012.11:g.45649620_45649621del, NC_000012.11:g.45649621del, NC_000012.11:g.45649621dup, NC_000012.11:g.45649620_45649621dup, NC_000012.11:g.45649619_45649621dup, NC_000012.11:g.45649618_45649621dup, NC_000012.11:g.45649617_45649621dup, NC_000012.11:g.45649616_45649621dup, NC_000012.11:g.45649615_45649621dup, NC_000012.11:g.45649614_45649621dup, NC_000012.11:g.45649613_45649621dup, NC_000012.11:g.45649612_45649621dup, NC_000012.11:g.45649611_45649621dup, NC_000012.11:g.45649610_45649621dup, NC_000012.11:g.45649609_45649621dup, NC_000012.11:g.45649608_45649621dup, NC_000012.11:g.45649607_45649621dup, NC_000012.11:g.45649606_45649621dup, NC_000012.11:g.45649605_45649621dup, NC_000012.11:g.45649604_45649621dup, NC_000012.11:g.45649603_45649621dup, NC_000012.11:g.45649602_45649621dup, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.45649621_45649622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44841_44852del, NG_028220.1:g.44844_44852del, NG_028220.1:g.44845_44852del, NG_028220.1:g.44846_44852del, NG_028220.1:g.44847_44852del, NG_028220.1:g.44848_44852del, NG_028220.1:g.44849_44852del, NG_028220.1:g.44850_44852del, NG_028220.1:g.44851_44852del, NG_028220.1:g.44852del, NG_028220.1:g.44852dup, NG_028220.1:g.44851_44852dup, NG_028220.1:g.44850_44852dup, NG_028220.1:g.44849_44852dup, NG_028220.1:g.44848_44852dup, NG_028220.1:g.44847_44852dup, NG_028220.1:g.44846_44852dup, NG_028220.1:g.44845_44852dup, NG_028220.1:g.44844_44852dup, NG_028220.1:g.44843_44852dup, NG_028220.1:g.44842_44852dup, NG_028220.1:g.44841_44852dup, NG_028220.1:g.44840_44852dup, NG_028220.1:g.44839_44852dup, NG_028220.1:g.44838_44852dup, NG_028220.1:g.44837_44852dup, NG_028220.1:g.44836_44852dup, NG_028220.1:g.44835_44852dup, NG_028220.1:g.44834_44852dup, NG_028220.1:g.44833_44852dup, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028220.1:g.44852_44853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149141037414.

rs1491410374 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG,TG [Show Flanks]
Chromosome:: 12:45244407 (GRCh38)
12:45638191 (GRCh37)
Canonical SPDI:: NC_000012.12:45244407:G:GCG,NC_000012.12:45244407:G:GTG
Gene:: ANO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GTG=0./0 (ALFA)
GT=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.45244408_45244409insCG, NC_000012.12:g.45244408_45244409insTG, NC_000012.11:g.45638191_45638192insCG, NC_000012.11:g.45638191_45638192insTG, NG_028220.1:g.33422_33423insCG, NG_028220.1:g.33422_33423insTG

Select item 149140629915.

rs1491406299 has merged into rs57126852 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:45240363 (GRCh38)
12:45634146 (GRCh37)
Canonical SPDI:: NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:45240351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ANO6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.45240363_45240387del, NC_000012.12:g.45240364_45240387del, NC_000012.12:g.45240365_45240387del, NC_000012.12:g.45240366_45240387del, NC_000012.12:g.45240367_45240387del, NC_000012.12:g.45240368_45240387del, NC_000012.12:g.45240369_45240387del, NC_000012.12:g.45240370_45240387del, NC_000012.12:g.45240371_45240387del, NC_000012.12:g.45240372_45240387del, NC_000012.12:g.45240373_45240387del, NC_000012.12:g.45240374_45240387del, NC_000012.12:g.45240375_45240387del, NC_000012.12:g.45240376_45240387del, NC_000012.12:g.45240377_45240387del, NC_000012.12:g.45240378_45240387del, NC_000012.12:g.45240379_45240387del, NC_000012.12:g.45240380_45240387del, NC_000012.12:g.45240381_45240387del, NC_000012.12:g.45240382_45240387del, NC_000012.12:g.45240383_45240387del, NC_000012.12:g.45240384_45240387del, NC_000012.12:g.45240385_45240387del, NC_000012.12:g.45240386_45240387del, NC_000012.12:g.45240387del, NC_000012.12:g.45240387dup, NC_000012.12:g.45240386_45240387dup, NC_000012.12:g.45240385_45240387dup, NC_000012.12:g.45240384_45240387dup, NC_000012.12:g.45240382_45240387dup, NC_000012.12:g.45240381_45240387dup, NC_000012.12:g.45240375_45240387dup, NC_000012.12:g.45240374_45240387dup, NC_000012.12:g.45240373_45240387dup, NC_000012.12:g.45240372_45240387dup, NC_000012.12:g.45240371_45240387dup, NC_000012.12:g.45240370_45240387dup, NC_000012.12:g.45240366_45240387dup, NC_000012.12:g.45240365_45240387dup, NC_000012.12:g.45240360_45240387dup, NC_000012.11:g.45634146_45634170del, NC_000012.11:g.45634147_45634170del, NC_000012.11:g.45634148_45634170del, NC_000012.11:g.45634149_45634170del, NC_000012.11:g.45634150_45634170del, NC_000012.11:g.45634151_45634170del, NC_000012.11:g.45634152_45634170del, NC_000012.11:g.45634153_45634170del, NC_000012.11:g.45634154_45634170del, NC_000012.11:g.45634155_45634170del, NC_000012.11:g.45634156_45634170del, NC_000012.11:g.45634157_45634170del, NC_000012.11:g.45634158_45634170del, NC_000012.11:g.45634159_45634170del, NC_000012.11:g.45634160_45634170del, NC_000012.11:g.45634161_45634170del, NC_000012.11:g.45634162_45634170del, NC_000012.11:g.45634163_45634170del, NC_000012.11:g.45634164_45634170del, NC_000012.11:g.45634165_45634170del, NC_000012.11:g.45634166_45634170del, NC_000012.11:g.45634167_45634170del, NC_000012.11:g.45634168_45634170del, NC_000012.11:g.45634169_45634170del, NC_000012.11:g.45634170del, NC_000012.11:g.45634170dup, NC_000012.11:g.45634169_45634170dup, NC_000012.11:g.45634168_45634170dup, NC_000012.11:g.45634167_45634170dup, NC_000012.11:g.45634165_45634170dup, NC_000012.11:g.45634164_45634170dup, NC_000012.11:g.45634158_45634170dup, NC_000012.11:g.45634157_45634170dup, NC_000012.11:g.45634156_45634170dup, NC_000012.11:g.45634155_45634170dup, NC_000012.11:g.45634154_45634170dup, NC_000012.11:g.45634153_45634170dup, NC_000012.11:g.45634149_45634170dup, NC_000012.11:g.45634148_45634170dup, NC_000012.11:g.45634143_45634170dup, NG_028220.1:g.29377_29401del, NG_028220.1:g.29378_29401del, NG_028220.1:g.29379_29401del, NG_028220.1:g.29380_29401del, NG_028220.1:g.29381_29401del, NG_028220.1:g.29382_29401del, NG_028220.1:g.29383_29401del, NG_028220.1:g.29384_29401del, NG_028220.1:g.29385_29401del, NG_028220.1:g.29386_29401del, NG_028220.1:g.29387_29401del, NG_028220.1:g.29388_29401del, NG_028220.1:g.29389_29401del, NG_028220.1:g.29390_29401del, NG_028220.1:g.29391_29401del, NG_028220.1:g.29392_29401del, NG_028220.1:g.29393_29401del, NG_028220.1:g.29394_29401del, NG_028220.1:g.29395_29401del, NG_028220.1:g.29396_29401del, NG_028220.1:g.29397_29401del, NG_028220.1:g.29398_29401del, NG_028220.1:g.29399_29401del, NG_028220.1:g.29400_29401del, NG_028220.1:g.29401del, NG_028220.1:g.29401dup, NG_028220.1:g.29400_29401dup, NG_028220.1:g.29399_29401dup, NG_028220.1:g.29398_29401dup, NG_028220.1:g.29396_29401dup, NG_028220.1:g.29395_29401dup, NG_028220.1:g.29389_29401dup, NG_028220.1:g.29388_29401dup, NG_028220.1:g.29387_29401dup, NG_028220.1:g.29386_29401dup, NG_028220.1:g.29385_29401dup, NG_028220.1:g.29384_29401dup, NG_028220.1:g.29380_29401dup, NG_028220.1:g.29379_29401dup, NG_028220.1:g.29374_29401dup

Select item 149140500616.

rs1491405006 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:45285747 (GRCh38)
12:45679531 (GRCh37)
Canonical SPDI:: NC_000012.12:45285747:G:GG
Gene:: ANO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.45285748dup, NC_000012.11:g.45679531dup, NG_028220.1:g.74762dup

Select item 149139790617.

rs1491397906 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:45244403 (GRCh38)
12:45638186 (GRCh37)
Canonical SPDI:: NC_000012.12:45244402:TG:
Gene:: ANO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000012.12:g.45244403_45244404del, NC_000012.11:g.45638186_45638187del, NG_028220.1:g.33417_33418del

Select item 149134380718.

rs1491343807 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 12:45293730 (GRCh38)
12:45687514 (GRCh37)
Canonical SPDI:: NC_000012.12:45293730:T:TGT
Gene:: ANO6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0.000084/1 (ALFA)
TG=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.45293731_45293732insGT, NC_000012.11:g.45687514_45687515insGT, NG_028220.1:g.82745_82746insGT

Select item 149132704119.

rs1491327041 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:45317133 (GRCh38)
12:45710916 (GRCh37)
Canonical SPDI:: NC_000012.12:45317131:TTT:T
Gene:: ANO6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00062/10 (ALFA)
-=0.00071/12 (TOMMO)
-=0.00092/90 (GnomAD)
-=0.00344/6 (Korea1K)
HGVS:: NC_000012.12:g.45317133_45317134del, NC_000012.11:g.45710916_45710917del, NG_028220.1:g.106147_106148del

Select item 149130991920.

rs1491309919 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:45240351 (GRCh38)
12:45634134 (GRCh37)
Canonical SPDI:: NC_000012.12:45240350:AT:
Gene:: ANO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0016/19 (ALFA)
HGVS:: NC_000012.12:g.45240351_45240352del, NC_000012.11:g.45634134_45634135del, NG_028220.1:g.29365_29366del

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