Links from Gene
Items: 1 to 20 of 1000
1.
rs1491584583 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:195294608
(GRCh38)
3:195015337
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195294607:AT:
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00843/100
(
ALFA)
-=0.0027/33
(TOMMO)
-=0.02356/1095
(GnomAD)
- HGVS:
2.
rs1491582822 has merged into rs1162275706 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:195424292
(GRCh38)
3:195145021
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195424283:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.195424292_195424312del, NC_000003.12:g.195424293_195424312del, NC_000003.12:g.195424294_195424312del, NC_000003.12:g.195424295_195424312del, NC_000003.12:g.195424296_195424312del, NC_000003.12:g.195424297_195424312del, NC_000003.12:g.195424298_195424312del, NC_000003.12:g.195424299_195424312del, NC_000003.12:g.195424300_195424312del, NC_000003.12:g.195424301_195424312del, NC_000003.12:g.195424302_195424312del, NC_000003.12:g.195424303_195424312del, NC_000003.12:g.195424304_195424312del, NC_000003.12:g.195424305_195424312del, NC_000003.12:g.195424306_195424312del, NC_000003.12:g.195424307_195424312del, NC_000003.12:g.195424308_195424312del, NC_000003.12:g.195424309_195424312del, NC_000003.12:g.195424310_195424312del, NC_000003.12:g.195424311_195424312del, NC_000003.12:g.195424312del, NC_000003.12:g.195424312dup, NC_000003.12:g.195424311_195424312dup, NC_000003.12:g.195424310_195424312dup, NC_000003.12:g.195424308_195424312dup, NC_000003.12:g.195424306_195424312dup, NC_000003.12:g.195424305_195424312dup, NC_000003.12:g.195424304_195424312dup, NC_000003.11:g.195145021_195145041del, NC_000003.11:g.195145022_195145041del, NC_000003.11:g.195145023_195145041del, NC_000003.11:g.195145024_195145041del, NC_000003.11:g.195145025_195145041del, NC_000003.11:g.195145026_195145041del, NC_000003.11:g.195145027_195145041del, NC_000003.11:g.195145028_195145041del, NC_000003.11:g.195145029_195145041del, NC_000003.11:g.195145030_195145041del, NC_000003.11:g.195145031_195145041del, NC_000003.11:g.195145032_195145041del, NC_000003.11:g.195145033_195145041del, NC_000003.11:g.195145034_195145041del, NC_000003.11:g.195145035_195145041del, NC_000003.11:g.195145036_195145041del, NC_000003.11:g.195145037_195145041del, NC_000003.11:g.195145038_195145041del, NC_000003.11:g.195145039_195145041del, NC_000003.11:g.195145040_195145041del, NC_000003.11:g.195145041del, NC_000003.11:g.195145041dup, NC_000003.11:g.195145040_195145041dup, NC_000003.11:g.195145039_195145041dup, NC_000003.11:g.195145037_195145041dup, NC_000003.11:g.195145035_195145041dup, NC_000003.11:g.195145034_195145041dup, NC_000003.11:g.195145033_195145041dup
3.
rs1491574063 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:195378086
(GRCh38)
3:195098816
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195378086::C
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
- HGVS:
4.
rs1491572871 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:195424224
(GRCh38)
3:195144953
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195424221:ATAT:AT
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATAT=0.00008/1
(
ALFA)
-=0.00008/7
(GnomAD)
- HGVS:
5.
rs1491542408 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:195423622
(GRCh38)
3:195144351
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195423621:CA:
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00042/5
(
ALFA)
-=0.0033/93
(TOMMO)
- HGVS:
6.
rs1491522212 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 3:195357217
(GRCh38)
3:195077946
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195357216:GGGGG:GGGG,NC_000003.12:195357216:GGGGG:GGGGGG
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491512409 has merged into rs59779977 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:195409889
(GRCh38)
3:195130618
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195409879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.195409889_195409906del, NC_000003.12:g.195409891_195409906del, NC_000003.12:g.195409892_195409906del, NC_000003.12:g.195409893_195409906del, NC_000003.12:g.195409894_195409906del, NC_000003.12:g.195409895_195409906del, NC_000003.12:g.195409896_195409906del, NC_000003.12:g.195409897_195409906del, NC_000003.12:g.195409898_195409906del, NC_000003.12:g.195409899_195409906del, NC_000003.12:g.195409900_195409906del, NC_000003.12:g.195409903_195409906del, NC_000003.12:g.195409904_195409906del, NC_000003.12:g.195409905_195409906del, NC_000003.12:g.195409906del, NC_000003.12:g.195409906dup, NC_000003.12:g.195409905_195409906dup, NC_000003.12:g.195409904_195409906dup, NC_000003.12:g.195409903_195409906dup, NC_000003.12:g.195409902_195409906dup, NC_000003.12:g.195409900_195409906dup, NC_000003.12:g.195409897_195409906dup, NC_000003.12:g.195409896_195409906dup, NC_000003.12:g.195409895_195409906dup, NC_000003.12:g.195409894_195409906dup, NC_000003.12:g.195409893_195409906dup, NC_000003.12:g.195409892_195409906dup, NC_000003.12:g.195409890_195409906dup, NC_000003.12:g.195409906_195409907insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.195409880_195409906A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.195130618_195130635del, NC_000003.11:g.195130620_195130635del, NC_000003.11:g.195130621_195130635del, NC_000003.11:g.195130622_195130635del, NC_000003.11:g.195130623_195130635del, NC_000003.11:g.195130624_195130635del, NC_000003.11:g.195130625_195130635del, NC_000003.11:g.195130626_195130635del, NC_000003.11:g.195130627_195130635del, NC_000003.11:g.195130628_195130635del, NC_000003.11:g.195130629_195130635del, NC_000003.11:g.195130632_195130635del, NC_000003.11:g.195130633_195130635del, NC_000003.11:g.195130634_195130635del, NC_000003.11:g.195130635del, NC_000003.11:g.195130635dup, NC_000003.11:g.195130634_195130635dup, NC_000003.11:g.195130633_195130635dup, NC_000003.11:g.195130632_195130635dup, NC_000003.11:g.195130631_195130635dup, NC_000003.11:g.195130629_195130635dup, NC_000003.11:g.195130626_195130635dup, NC_000003.11:g.195130625_195130635dup, NC_000003.11:g.195130624_195130635dup, NC_000003.11:g.195130623_195130635dup, NC_000003.11:g.195130622_195130635dup, NC_000003.11:g.195130621_195130635dup, NC_000003.11:g.195130619_195130635dup, NC_000003.11:g.195130635_195130636insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.195130609_195130635A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
8.
rs1491511539 has merged into rs34637964 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGG>-,G,GG,GGGG,GGGGG
[Show Flanks]
- Chromosome:
- 3:195393893
(GRCh38)
3:195114622
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195393884:GGGGGGGGGGG:GGGGGGGG,NC_000003.12:195393884:GGGGGGGGGGG:GGGGGGGGG,NC_000003.12:195393884:GGGGGGGGGGG:GGGGGGGGGG,NC_000003.12:195393884:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000003.12:195393884:GGGGGGGGGGG:GGGGGGGGGGGGG
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGGGG=0.0002/2
(
ALFA)
-=0.0169/65
(ALSPAC)
-=0.4555/2281
(1000Genomes)
- HGVS:
9.
rs1491481258 has merged into rs1491296622 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 3:195396815
(GRCh38)
3:195117544
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195396813:AGA:A
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.015427/183
(
ALFA)
-=0.00025/7
(TOMMO)
-=0.013559/1841
(GnomAD)
-=0.02842/182
(1000Genomes)
- HGVS:
10.
rs1491478131 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA
[Show Flanks]
- Chromosome:
- 3:195294609
(GRCh38)
3:195015339
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195294609::A,NC_000003.12:195294609::ATA,NC_000003.12:195294609::ATATA,NC_000003.12:195294609::ATATATA,NC_000003.12:195294609::ATATATATA,NC_000003.12:195294609::ATATATATATA,NC_000003.12:195294609::ATATATATATATA,NC_000003.12:195294609::ATATATATATATATA,NC_000003.12:195294609::ATATATATATATATATA
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.195294609_195294610insA, NC_000003.12:g.195294609_195294610insATA, NC_000003.12:g.195294609_195294610insATATA, NC_000003.12:g.195294609_195294610insATATATA, NC_000003.12:g.195294609_195294610insATATATATA, NC_000003.12:g.195294609_195294610insATATATATATA, NC_000003.12:g.195294609_195294610insATATATATATATA, NC_000003.12:g.195294609_195294610insATATATATATATATA, NC_000003.12:g.195294609_195294610insATATATATATATATATA, NC_000003.11:g.195015338_195015339insA, NC_000003.11:g.195015338_195015339insATA, NC_000003.11:g.195015338_195015339insATATA, NC_000003.11:g.195015338_195015339insATATATA, NC_000003.11:g.195015338_195015339insATATATATA, NC_000003.11:g.195015338_195015339insATATATATATA, NC_000003.11:g.195015338_195015339insATATATATATATA, NC_000003.11:g.195015338_195015339insATATATATATATATA, NC_000003.11:g.195015338_195015339insATATATATATATATATA
11.
rs1491474494 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:195437210
(GRCh38)
3:195157939
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195437209:AT:
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000016/2
(GnomAD)
- HGVS:
12.
rs1491459758 has merged into rs56874761 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 3:195437222
(GRCh38)
3:195157951
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195437210:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:195437210:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:195437210:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:195437210:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.20833/125
(NorthernSweden)
-=0.23975/889
(TWINSUK)
-=0.24831/957
(ALSPAC)
-=0.275/11
(GENOME_DK)
-=0.47165/2362
(1000Genomes)
- HGVS:
13.
rs1491457161 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 3:195424222
(GRCh38)
3:195144952
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195424222:T:TGT
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0./0
(
ALFA)
TG=0.00003/2
(GnomAD)
- HGVS:
18.
rs1491405908 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 3:195314200
(GRCh38)
3:195034930
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195314200::G
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.0016/19
(
ALFA)
G=0.00004/0
(TOMMO)
G=0.0021/162
(GnomAD)
- HGVS:
20.
rs1491368848 has merged into rs111726124 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 3:195353769
(GRCh38)
3:195074498
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195353768:AAAAAAA:AAAAAA,NC_000003.12:195353768:AAAAAAA:AAAAAAAA
- Gene:
- ACAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.008333/5
(NorthernSweden)
-=0.016087/62
(ALSPAC)
-=0.016451/61
(TWINSUK)
-=0.037118/68
(Korea1K)
-=0.05517/925
(TOMMO)
-=0.079799/21122
(TOPMED)
-=0.110623/554
(1000Genomes)
- HGVS: