Links from Gene
Items: 1 to 20 of 85852
1.
rs1491583092 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:10535385
(GRCh38)
3:10577069
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10535384:AT:
- Gene:
- ATP2B2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000009/1
(GnomAD)
-=0.004045/15
(TWINSUK)
-=0.005449/21
(ALSPAC)
- HGVS:
2.
rs1491582138 has merged into rs71055820 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG
[Show Flanks]
- Chromosome:
- 3:10505804
(GRCh38)
3:10547488
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10505797:GGGGGGGG:GGGGGG,NC_000003.12:10505797:GGGGGGGG:GGGGGGG,NC_000003.12:10505797:GGGGGGGG:GGGGGGGGG,NC_000003.12:10505797:GGGGGGGG:GGGGGGGGGG,NC_000003.12:10505797:GGGGGGGG:GGGGGGGGGGG,NC_000003.12:10505797:GGGGGGGG:GGGGGGGGGGGG
- Gene:
- ATP2B2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0./0
(
ALFA)
G=0.2895/11
(GENOME_DK)
- HGVS:
NC_000003.12:g.10505804_10505805del, NC_000003.12:g.10505805del, NC_000003.12:g.10505805dup, NC_000003.12:g.10505804_10505805dup, NC_000003.12:g.10505803_10505805dup, NC_000003.12:g.10505802_10505805dup, NC_000003.11:g.10547488_10547489del, NC_000003.11:g.10547489del, NC_000003.11:g.10547489dup, NC_000003.11:g.10547488_10547489dup, NC_000003.11:g.10547487_10547489dup, NC_000003.11:g.10547486_10547489dup, NG_012046.2:g.207233_207234del, NG_012046.2:g.207234del, NG_012046.2:g.207234dup, NG_012046.2:g.207233_207234dup, NG_012046.2:g.207232_207234dup, NG_012046.2:g.207231_207234dup
3.
rs1491567411 has merged into rs1553616064 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 3:10486345
(GRCh38)
3:10528029
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- ATP2B2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.000064/17
(TOPMED)
-=0.000389/6
(TOMMO)
- HGVS:
NC_000003.12:g.10486325GT[10], NC_000003.12:g.10486325GT[11], NC_000003.12:g.10486325GT[12], NC_000003.12:g.10486325GT[13], NC_000003.12:g.10486325GT[14], NC_000003.12:g.10486325GT[15], NC_000003.12:g.10486325GT[16], NC_000003.12:g.10486325GT[17], NC_000003.12:g.10486325GT[19], NC_000003.12:g.10486325GT[20], NC_000003.12:g.10486325GT[21], NC_000003.12:g.10486325GT[22], NC_000003.12:g.10486325GT[23], NC_000003.12:g.10486325GT[24], NC_000003.11:g.10528009GT[10], NC_000003.11:g.10528009GT[11], NC_000003.11:g.10528009GT[12], NC_000003.11:g.10528009GT[13], NC_000003.11:g.10528009GT[14], NC_000003.11:g.10528009GT[15], NC_000003.11:g.10528009GT[16], NC_000003.11:g.10528009GT[17], NC_000003.11:g.10528009GT[19], NC_000003.11:g.10528009GT[20], NC_000003.11:g.10528009GT[21], NC_000003.11:g.10528009GT[22], NC_000003.11:g.10528009GT[23], NC_000003.11:g.10528009GT[24], NG_012046.2:g.226672AC[10], NG_012046.2:g.226672AC[11], NG_012046.2:g.226672AC[12], NG_012046.2:g.226672AC[13], NG_012046.2:g.226672AC[14], NG_012046.2:g.226672AC[15], NG_012046.2:g.226672AC[16], NG_012046.2:g.226672AC[17], NG_012046.2:g.226672AC[19], NG_012046.2:g.226672AC[20], NG_012046.2:g.226672AC[21], NG_012046.2:g.226672AC[22], NG_012046.2:g.226672AC[23], NG_012046.2:g.226672AC[24]
4.
rs1491542750 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:10516962
(GRCh38)
3:10558646
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10516961:AT:
- Gene:
- ATP2B2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.00003/4
(GnomAD)
- HGVS:
6.
rs1491481873 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATGTGTG
[Show Flanks]
- Chromosome:
- 3:10486325
(GRCh38)
3:10528010
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10486325:TGTGTG:TGTGTGCATGTGTG
- Gene:
- ATP2B2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTGCATGTGTG=0./0
(
ALFA)
- HGVS:
7.
rs1491477731 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 3:10501372
(GRCh38)
3:10543056
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10501371:GG:
- Gene:
- ATP2B2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.056839/364
(1000Genomes)
-=0.060811/6630
(GnomAD)
- HGVS:
8.
rs1491472376 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:10472080
(GRCh38)
3:10513764
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10472079:CA:
- Gene:
- ATP2B2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00211/25
(
ALFA)
-=0.00994/161
(TOMMO)
- HGVS:
9.
rs1491471080 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:10610137
(GRCh38)
3:10651822
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10610136:AT:
- Gene:
- ATP2B2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
11.
rs1491436671 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:10564787
(GRCh38)
3:10606471
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10564786:AT:
- Gene:
- ATP2B2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
14.
rs1491383679 has merged into rs34073958 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:10686054
(GRCh38)
3:10727739
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ATP2B2 (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_000003.12:g.10686054_10686066del, NC_000003.12:g.10686055_10686066del, NC_000003.12:g.10686056_10686066del, NC_000003.12:g.10686057_10686066del, NC_000003.12:g.10686058_10686066del, NC_000003.12:g.10686059_10686066del, NC_000003.12:g.10686060_10686066del, NC_000003.12:g.10686061_10686066del, NC_000003.12:g.10686062_10686066del, NC_000003.12:g.10686063_10686066del, NC_000003.12:g.10686064_10686066del, NC_000003.12:g.10686065_10686066del, NC_000003.12:g.10686066del, NC_000003.12:g.10686066dup, NC_000003.12:g.10686065_10686066dup, NC_000003.12:g.10686064_10686066dup, NC_000003.12:g.10686063_10686066dup, NC_000003.12:g.10686062_10686066dup, NC_000003.12:g.10686061_10686066dup, NC_000003.12:g.10686060_10686066dup, NC_000003.12:g.10686059_10686066dup, NC_000003.12:g.10686058_10686066dup, NC_000003.12:g.10686057_10686066dup, NC_000003.12:g.10686056_10686066dup, NC_000003.12:g.10686055_10686066dup, NC_000003.12:g.10686053_10686066dup, NC_000003.12:g.10686051_10686066dup, NC_000003.12:g.10686050_10686066dup, NC_000003.12:g.10686049_10686066dup, NC_000003.12:g.10686048_10686066dup, NC_000003.12:g.10686047_10686066dup, NC_000003.12:g.10686046_10686066dup, NC_000003.12:g.10686045_10686066dup, NC_000003.12:g.10686044_10686066dup, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727739_10727751del, NC_000003.11:g.10727740_10727751del, NC_000003.11:g.10727741_10727751del, NC_000003.11:g.10727742_10727751del, NC_000003.11:g.10727743_10727751del, NC_000003.11:g.10727744_10727751del, NC_000003.11:g.10727745_10727751del, NC_000003.11:g.10727746_10727751del, NC_000003.11:g.10727747_10727751del, NC_000003.11:g.10727748_10727751del, NC_000003.11:g.10727749_10727751del, NC_000003.11:g.10727750_10727751del, NC_000003.11:g.10727751del, NC_000003.11:g.10727751dup, NC_000003.11:g.10727750_10727751dup, NC_000003.11:g.10727749_10727751dup, NC_000003.11:g.10727748_10727751dup, NC_000003.11:g.10727747_10727751dup, NC_000003.11:g.10727746_10727751dup, NC_000003.11:g.10727745_10727751dup, NC_000003.11:g.10727744_10727751dup, NC_000003.11:g.10727743_10727751dup, NC_000003.11:g.10727742_10727751dup, NC_000003.11:g.10727741_10727751dup, NC_000003.11:g.10727740_10727751dup, NC_000003.11:g.10727738_10727751dup, NC_000003.11:g.10727736_10727751dup, NC_000003.11:g.10727735_10727751dup, NC_000003.11:g.10727734_10727751dup, NC_000003.11:g.10727733_10727751dup, NC_000003.11:g.10727732_10727751dup, NC_000003.11:g.10727731_10727751dup, NC_000003.11:g.10727730_10727751dup, NC_000003.11:g.10727729_10727751dup, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012046.2:g.26976_26988del, NG_012046.2:g.26977_26988del, NG_012046.2:g.26978_26988del, NG_012046.2:g.26979_26988del, NG_012046.2:g.26980_26988del, NG_012046.2:g.26981_26988del, NG_012046.2:g.26982_26988del, NG_012046.2:g.26983_26988del, NG_012046.2:g.26984_26988del, NG_012046.2:g.26985_26988del, NG_012046.2:g.26986_26988del, NG_012046.2:g.26987_26988del, NG_012046.2:g.26988del, NG_012046.2:g.26988dup, NG_012046.2:g.26987_26988dup, NG_012046.2:g.26986_26988dup, NG_012046.2:g.26985_26988dup, NG_012046.2:g.26984_26988dup, NG_012046.2:g.26983_26988dup, NG_012046.2:g.26982_26988dup, NG_012046.2:g.26981_26988dup, NG_012046.2:g.26980_26988dup, NG_012046.2:g.26979_26988dup, NG_012046.2:g.26978_26988dup, NG_012046.2:g.26977_26988dup, NG_012046.2:g.26975_26988dup, NG_012046.2:g.26973_26988dup, NG_012046.2:g.26972_26988dup, NG_012046.2:g.26971_26988dup, NG_012046.2:g.26970_26988dup, NG_012046.2:g.26969_26988dup, NG_012046.2:g.26968_26988dup, NG_012046.2:g.26967_26988dup, NG_012046.2:g.26966_26988dup, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
15.
rs1491366570 has merged into rs773018694 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 3:10356149
(GRCh38)
3:10397833
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10356147:GTGTGTG:G,NC_000003.12:10356147:GTGTGTG:GTG,NC_000003.12:10356147:GTGTGTG:GTGTG,NC_000003.12:10356147:GTGTGTG:GTGTGTGTG,NC_000003.12:10356147:GTGTGTG:GTGTGTGTGTG,NC_000003.12:10356147:GTGTGTG:GTGTGTGTGTGTG,NC_000003.12:10356147:GTGTGTG:GTGTGTGTGTGTGTG,NC_000003.12:10356147:GTGTGTG:GTGTGTGTGTGTGTGTG,NC_000003.12:10356147:GTGTGTG:GTGTGTGTGTGTGTGTGTG
- Gene:
- ATP2B2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.10356149_10356154del, NC_000003.12:g.10356149TG[1], NC_000003.12:g.10356149TG[2], NC_000003.12:g.10356149TG[4], NC_000003.12:g.10356149TG[5], NC_000003.12:g.10356149TG[6], NC_000003.12:g.10356149TG[7], NC_000003.12:g.10356149TG[8], NC_000003.12:g.10356149TG[9], NC_000003.11:g.10397833_10397838del, NC_000003.11:g.10397833TG[1], NC_000003.11:g.10397833TG[2], NC_000003.11:g.10397833TG[4], NC_000003.11:g.10397833TG[5], NC_000003.11:g.10397833TG[6], NC_000003.11:g.10397833TG[7], NC_000003.11:g.10397833TG[8], NC_000003.11:g.10397833TG[9], NG_012046.2:g.356879_356884del, NG_012046.2:g.356879AC[1], NG_012046.2:g.356879AC[2], NG_012046.2:g.356879AC[4], NG_012046.2:g.356879AC[5], NG_012046.2:g.356879AC[6], NG_012046.2:g.356879AC[7], NG_012046.2:g.356879AC[8], NG_012046.2:g.356879AC[9]
16.
rs1491358177 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 3:10623077
(GRCh38)
3:10664762
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10623076:CCC:CC,NC_000003.12:10623076:CCC:CCCC
- Gene:
- ATP2B2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
17.
rs1491338630 has merged into rs61701156 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:10573162
(GRCh38)
3:10614846
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- ATP2B2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.4563/2285
(1000Genomes)
T=0.475/19
(GENOME_DK)
- HGVS:
NC_000003.12:g.10573162_10573164del, NC_000003.12:g.10573163_10573164del, NC_000003.12:g.10573164del, NC_000003.12:g.10573164dup, NC_000003.12:g.10573163_10573164dup, NC_000003.12:g.10573162_10573164dup, NC_000003.12:g.10573161_10573164dup, NC_000003.12:g.10573159_10573164dup, NC_000003.11:g.10614846_10614848del, NC_000003.11:g.10614847_10614848del, NC_000003.11:g.10614848del, NC_000003.11:g.10614848dup, NC_000003.11:g.10614847_10614848dup, NC_000003.11:g.10614846_10614848dup, NC_000003.11:g.10614845_10614848dup, NC_000003.11:g.10614843_10614848dup, NG_012046.2:g.139878_139880del, NG_012046.2:g.139879_139880del, NG_012046.2:g.139880del, NG_012046.2:g.139880dup, NG_012046.2:g.139879_139880dup, NG_012046.2:g.139878_139880dup, NG_012046.2:g.139877_139880dup, NG_012046.2:g.139875_139880dup
18.
rs1491335361 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC
[Show Flanks]
- Chromosome:
- 3:10487240
(GRCh38)
3:10528925
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10487240:C:CAC
- Gene:
- ATP2B2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CAC=0./0
(
ALFA)
CA=0.000021/3
(GnomAD)
- HGVS:
20.
rs1491300027 has merged into rs6147706 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACACACACACACAC>-,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 3:10512482
(GRCh38)
3:10554166
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- ATP2B2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACACACACACAC=0./0
(
ALFA)
-=0.1783/661
(TWINSUK)
-=0.1827/704
(ALSPAC)
- HGVS:
NC_000003.12:g.10512466AC[8], NC_000003.12:g.10512466AC[13], NC_000003.12:g.10512466AC[14], NC_000003.12:g.10512466AC[15], NC_000003.12:g.10512466AC[16], NC_000003.12:g.10512466AC[17], NC_000003.12:g.10512466AC[18], NC_000003.12:g.10512466AC[19], NC_000003.12:g.10512466AC[20], NC_000003.12:g.10512466AC[21], NC_000003.12:g.10512466AC[22], NC_000003.12:g.10512466AC[23], NC_000003.12:g.10512466AC[24], NC_000003.12:g.10512466AC[25], NC_000003.12:g.10512466AC[27], NC_000003.12:g.10512466AC[28], NC_000003.12:g.10512466AC[29], NC_000003.12:g.10512466AC[30], NC_000003.12:g.10512466AC[31], NC_000003.12:g.10512466AC[32], NC_000003.12:g.10512466AC[33], NC_000003.12:g.10512466AC[34], NC_000003.12:g.10512466AC[38], NC_000003.12:g.10512466AC[41], NC_000003.11:g.10554150AC[8], NC_000003.11:g.10554150AC[13], NC_000003.11:g.10554150AC[14], NC_000003.11:g.10554150AC[15], NC_000003.11:g.10554150AC[16], NC_000003.11:g.10554150AC[17], NC_000003.11:g.10554150AC[18], NC_000003.11:g.10554150AC[19], NC_000003.11:g.10554150AC[20], NC_000003.11:g.10554150AC[21], NC_000003.11:g.10554150AC[22], NC_000003.11:g.10554150AC[23], NC_000003.11:g.10554150AC[24], NC_000003.11:g.10554150AC[25], NC_000003.11:g.10554150AC[27], NC_000003.11:g.10554150AC[28], NC_000003.11:g.10554150AC[29], NC_000003.11:g.10554150AC[30], NC_000003.11:g.10554150AC[31], NC_000003.11:g.10554150AC[32], NC_000003.11:g.10554150AC[33], NC_000003.11:g.10554150AC[34], NC_000003.11:g.10554150AC[38], NC_000003.11:g.10554150AC[41], NG_012046.2:g.200516TG[8], NG_012046.2:g.200516TG[13], NG_012046.2:g.200516TG[14], NG_012046.2:g.200516TG[15], NG_012046.2:g.200516TG[16], NG_012046.2:g.200516TG[17], NG_012046.2:g.200516TG[18], NG_012046.2:g.200516TG[19], NG_012046.2:g.200516TG[20], NG_012046.2:g.200516TG[21], NG_012046.2:g.200516TG[22], NG_012046.2:g.200516TG[23], NG_012046.2:g.200516TG[24], NG_012046.2:g.200516TG[25], NG_012046.2:g.200516TG[27], NG_012046.2:g.200516TG[28], NG_012046.2:g.200516TG[29], NG_012046.2:g.200516TG[30], NG_012046.2:g.200516TG[31], NG_012046.2:g.200516TG[32], NG_012046.2:g.200516TG[33], NG_012046.2:g.200516TG[34], NG_012046.2:g.200516TG[38], NG_012046.2:g.200516TG[41]