Links from Gene
Items: 1 to 20 of 9859
1.
rs1491516838 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 7:77692134
(GRCh38)
7:77321451
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77692133:CA:
- Gene:
- APTR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00565/67
(
ALFA)
-=0.00117/2
(Korea1K)
-=0.00347/57
(TOMMO)
- HGVS:
2.
rs1491444781 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:77694277
(GRCh38)
7:77323595
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77694277::G
- Gene:
- APTR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1491353587 has merged into rs56357503 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:77670609
(GRCh38)
7:77299926
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- APTR (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.77670609_77670624del, NC_000007.14:g.77670610_77670624del, NC_000007.14:g.77670611_77670624del, NC_000007.14:g.77670613_77670624del, NC_000007.14:g.77670614_77670624del, NC_000007.14:g.77670615_77670624del, NC_000007.14:g.77670616_77670624del, NC_000007.14:g.77670617_77670624del, NC_000007.14:g.77670618_77670624del, NC_000007.14:g.77670619_77670624del, NC_000007.14:g.77670620_77670624del, NC_000007.14:g.77670621_77670624del, NC_000007.14:g.77670622_77670624del, NC_000007.14:g.77670623_77670624del, NC_000007.14:g.77670624del, NC_000007.14:g.77670624dup, NC_000007.14:g.77670623_77670624dup, NC_000007.14:g.77670622_77670624dup, NC_000007.14:g.77670621_77670624dup, NC_000007.14:g.77670620_77670624dup, NC_000007.14:g.77670618_77670624dup, NC_000007.14:g.77670617_77670624dup, NC_000007.14:g.77670616_77670624dup, NC_000007.14:g.77670615_77670624dup, NC_000007.14:g.77670614_77670624dup, NC_000007.14:g.77670613_77670624dup, NC_000007.14:g.77670612_77670624dup, NC_000007.14:g.77670611_77670624dup, NC_000007.14:g.77670606_77670624dup, NC_000007.13:g.77299926_77299941del, NC_000007.13:g.77299927_77299941del, NC_000007.13:g.77299928_77299941del, NC_000007.13:g.77299930_77299941del, NC_000007.13:g.77299931_77299941del, NC_000007.13:g.77299932_77299941del, NC_000007.13:g.77299933_77299941del, NC_000007.13:g.77299934_77299941del, NC_000007.13:g.77299935_77299941del, NC_000007.13:g.77299936_77299941del, NC_000007.13:g.77299937_77299941del, NC_000007.13:g.77299938_77299941del, NC_000007.13:g.77299939_77299941del, NC_000007.13:g.77299940_77299941del, NC_000007.13:g.77299941del, NC_000007.13:g.77299941dup, NC_000007.13:g.77299940_77299941dup, NC_000007.13:g.77299939_77299941dup, NC_000007.13:g.77299938_77299941dup, NC_000007.13:g.77299937_77299941dup, NC_000007.13:g.77299935_77299941dup, NC_000007.13:g.77299934_77299941dup, NC_000007.13:g.77299933_77299941dup, NC_000007.13:g.77299932_77299941dup, NC_000007.13:g.77299931_77299941dup, NC_000007.13:g.77299930_77299941dup, NC_000007.13:g.77299929_77299941dup, NC_000007.13:g.77299928_77299941dup, NC_000007.13:g.77299923_77299941dup
5.
rs1491298704 has merged into rs575644068 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:77692141
(GRCh38)
7:77321458
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77692134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- APTR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.125/5
(GENOME_DK)
- HGVS:
NC_000007.14:g.77692141_77692154del, NC_000007.14:g.77692145_77692154del, NC_000007.14:g.77692146_77692154del, NC_000007.14:g.77692147_77692154del, NC_000007.14:g.77692148_77692154del, NC_000007.14:g.77692149_77692154del, NC_000007.14:g.77692150_77692154del, NC_000007.14:g.77692151_77692154del, NC_000007.14:g.77692152_77692154del, NC_000007.14:g.77692153_77692154del, NC_000007.14:g.77692154del, NC_000007.14:g.77692154dup, NC_000007.14:g.77692153_77692154dup, NC_000007.14:g.77692152_77692154dup, NC_000007.14:g.77692151_77692154dup, NC_000007.14:g.77692150_77692154dup, NC_000007.14:g.77692149_77692154dup, NC_000007.14:g.77692148_77692154dup, NC_000007.14:g.77692147_77692154dup, NC_000007.14:g.77692146_77692154dup, NC_000007.14:g.77692145_77692154dup, NC_000007.14:g.77692143_77692154dup, NC_000007.14:g.77692140_77692154dup, NC_000007.14:g.77692139_77692154dup, NC_000007.14:g.77692138_77692154dup, NC_000007.14:g.77692137_77692154dup, NC_000007.14:g.77692136_77692154dup, NC_000007.14:g.77692154_77692155insAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.77321458_77321471del, NC_000007.13:g.77321462_77321471del, NC_000007.13:g.77321463_77321471del, NC_000007.13:g.77321464_77321471del, NC_000007.13:g.77321465_77321471del, NC_000007.13:g.77321466_77321471del, NC_000007.13:g.77321467_77321471del, NC_000007.13:g.77321468_77321471del, NC_000007.13:g.77321469_77321471del, NC_000007.13:g.77321470_77321471del, NC_000007.13:g.77321471del, NC_000007.13:g.77321471dup, NC_000007.13:g.77321470_77321471dup, NC_000007.13:g.77321469_77321471dup, NC_000007.13:g.77321468_77321471dup, NC_000007.13:g.77321467_77321471dup, NC_000007.13:g.77321466_77321471dup, NC_000007.13:g.77321465_77321471dup, NC_000007.13:g.77321464_77321471dup, NC_000007.13:g.77321463_77321471dup, NC_000007.13:g.77321462_77321471dup, NC_000007.13:g.77321460_77321471dup, NC_000007.13:g.77321457_77321471dup, NC_000007.13:g.77321456_77321471dup, NC_000007.13:g.77321455_77321471dup, NC_000007.13:g.77321454_77321471dup, NC_000007.13:g.77321453_77321471dup, NC_000007.13:g.77321471_77321472insAAAAAAAAAAAAAAAAAAAAA
6.
rs1491279000 has merged into rs56357503 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:77670609
(GRCh38)
7:77299926
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77670600:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- APTR (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.77670609_77670624del, NC_000007.14:g.77670610_77670624del, NC_000007.14:g.77670611_77670624del, NC_000007.14:g.77670613_77670624del, NC_000007.14:g.77670614_77670624del, NC_000007.14:g.77670615_77670624del, NC_000007.14:g.77670616_77670624del, NC_000007.14:g.77670617_77670624del, NC_000007.14:g.77670618_77670624del, NC_000007.14:g.77670619_77670624del, NC_000007.14:g.77670620_77670624del, NC_000007.14:g.77670621_77670624del, NC_000007.14:g.77670622_77670624del, NC_000007.14:g.77670623_77670624del, NC_000007.14:g.77670624del, NC_000007.14:g.77670624dup, NC_000007.14:g.77670623_77670624dup, NC_000007.14:g.77670622_77670624dup, NC_000007.14:g.77670621_77670624dup, NC_000007.14:g.77670620_77670624dup, NC_000007.14:g.77670618_77670624dup, NC_000007.14:g.77670617_77670624dup, NC_000007.14:g.77670616_77670624dup, NC_000007.14:g.77670615_77670624dup, NC_000007.14:g.77670614_77670624dup, NC_000007.14:g.77670613_77670624dup, NC_000007.14:g.77670612_77670624dup, NC_000007.14:g.77670611_77670624dup, NC_000007.14:g.77670606_77670624dup, NC_000007.13:g.77299926_77299941del, NC_000007.13:g.77299927_77299941del, NC_000007.13:g.77299928_77299941del, NC_000007.13:g.77299930_77299941del, NC_000007.13:g.77299931_77299941del, NC_000007.13:g.77299932_77299941del, NC_000007.13:g.77299933_77299941del, NC_000007.13:g.77299934_77299941del, NC_000007.13:g.77299935_77299941del, NC_000007.13:g.77299936_77299941del, NC_000007.13:g.77299937_77299941del, NC_000007.13:g.77299938_77299941del, NC_000007.13:g.77299939_77299941del, NC_000007.13:g.77299940_77299941del, NC_000007.13:g.77299941del, NC_000007.13:g.77299941dup, NC_000007.13:g.77299940_77299941dup, NC_000007.13:g.77299939_77299941dup, NC_000007.13:g.77299938_77299941dup, NC_000007.13:g.77299937_77299941dup, NC_000007.13:g.77299935_77299941dup, NC_000007.13:g.77299934_77299941dup, NC_000007.13:g.77299933_77299941dup, NC_000007.13:g.77299932_77299941dup, NC_000007.13:g.77299931_77299941dup, NC_000007.13:g.77299930_77299941dup, NC_000007.13:g.77299929_77299941dup, NC_000007.13:g.77299928_77299941dup, NC_000007.13:g.77299923_77299941dup
7.
rs1491250381 has merged into rs5885029 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:77671549
(GRCh38)
7:77300866
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- APTR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.1681/648
(ALSPAC)
- HGVS:
NC_000007.14:g.77671549_77671560del, NC_000007.14:g.77671550_77671560del, NC_000007.14:g.77671554_77671560del, NC_000007.14:g.77671555_77671560del, NC_000007.14:g.77671556_77671560del, NC_000007.14:g.77671557_77671560del, NC_000007.14:g.77671558_77671560del, NC_000007.14:g.77671559_77671560del, NC_000007.14:g.77671560del, NC_000007.14:g.77671560dup, NC_000007.14:g.77671559_77671560dup, NC_000007.14:g.77671558_77671560dup, NC_000007.14:g.77671557_77671560dup, NC_000007.14:g.77671546_77671560dup, NC_000007.13:g.77300866_77300877del, NC_000007.13:g.77300867_77300877del, NC_000007.13:g.77300871_77300877del, NC_000007.13:g.77300872_77300877del, NC_000007.13:g.77300873_77300877del, NC_000007.13:g.77300874_77300877del, NC_000007.13:g.77300875_77300877del, NC_000007.13:g.77300876_77300877del, NC_000007.13:g.77300877del, NC_000007.13:g.77300877dup, NC_000007.13:g.77300876_77300877dup, NC_000007.13:g.77300875_77300877dup, NC_000007.13:g.77300874_77300877dup, NC_000007.13:g.77300863_77300877dup
9.
rs1491237831 has merged into rs35504374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:77691633
(GRCh38)
7:77320950
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- APTR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.4477/2242
(1000Genomes)
- HGVS:
NC_000007.14:g.77691633_77691645del, NC_000007.14:g.77691635_77691645del, NC_000007.14:g.77691639_77691645del, NC_000007.14:g.77691640_77691645del, NC_000007.14:g.77691641_77691645del, NC_000007.14:g.77691642_77691645del, NC_000007.14:g.77691643_77691645del, NC_000007.14:g.77691644_77691645del, NC_000007.14:g.77691645del, NC_000007.14:g.77691645dup, NC_000007.14:g.77691644_77691645dup, NC_000007.14:g.77691643_77691645dup, NC_000007.13:g.77320950_77320962del, NC_000007.13:g.77320952_77320962del, NC_000007.13:g.77320956_77320962del, NC_000007.13:g.77320957_77320962del, NC_000007.13:g.77320958_77320962del, NC_000007.13:g.77320959_77320962del, NC_000007.13:g.77320960_77320962del, NC_000007.13:g.77320961_77320962del, NC_000007.13:g.77320962del, NC_000007.13:g.77320962dup, NC_000007.13:g.77320961_77320962dup, NC_000007.13:g.77320960_77320962dup
11.
rs1491117025 has merged into rs35504374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:77691633
(GRCh38)
7:77320950
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- APTR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.4477/2242
(1000Genomes)
- HGVS:
NC_000007.14:g.77691633_77691645del, NC_000007.14:g.77691635_77691645del, NC_000007.14:g.77691639_77691645del, NC_000007.14:g.77691640_77691645del, NC_000007.14:g.77691641_77691645del, NC_000007.14:g.77691642_77691645del, NC_000007.14:g.77691643_77691645del, NC_000007.14:g.77691644_77691645del, NC_000007.14:g.77691645del, NC_000007.14:g.77691645dup, NC_000007.14:g.77691644_77691645dup, NC_000007.14:g.77691643_77691645dup, NC_000007.13:g.77320950_77320962del, NC_000007.13:g.77320952_77320962del, NC_000007.13:g.77320956_77320962del, NC_000007.13:g.77320957_77320962del, NC_000007.13:g.77320958_77320962del, NC_000007.13:g.77320959_77320962del, NC_000007.13:g.77320960_77320962del, NC_000007.13:g.77320961_77320962del, NC_000007.13:g.77320962del, NC_000007.13:g.77320962dup, NC_000007.13:g.77320961_77320962dup, NC_000007.13:g.77320960_77320962dup
12.
rs1491108421 has merged into rs59373316 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGAAGGAAGGAAGGAAGGAA>-,GGAA,GGAAGGAA,GGAAGGAAGGAA,GGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA
[Show Flanks]
- Chromosome:
- 7:77662952
(GRCh38)
7:77292269
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77662941:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:AAGGAAGGAA,NC_000007.14:77662941:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:AAGGAAGGAAGGAA,NC_000007.14:77662941:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:AAGGAAGGAAGGAAGGAA,NC_000007.14:77662941:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:AAGGAAGGAAGGAAGGAAGGAA,NC_000007.14:77662941:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:AAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000007.14:77662941:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000007.14:77662941:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000007.14:77662941:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000007.14:77662941:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA
- Gene:
- APTR (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGGAAGGAAGGAA=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.77662944GGAA[2], NC_000007.14:g.77662944GGAA[3], NC_000007.14:g.77662944GGAA[4], NC_000007.14:g.77662944GGAA[5], NC_000007.14:g.77662944GGAA[6], NC_000007.14:g.77662944GGAA[8], NC_000007.14:g.77662944GGAA[9], NC_000007.14:g.77662944GGAA[10], NC_000007.14:g.77662944GGAA[11], NC_000007.13:g.77292261GGAA[2], NC_000007.13:g.77292261GGAA[3], NC_000007.13:g.77292261GGAA[4], NC_000007.13:g.77292261GGAA[5], NC_000007.13:g.77292261GGAA[6], NC_000007.13:g.77292261GGAA[8], NC_000007.13:g.77292261GGAA[9], NC_000007.13:g.77292261GGAA[10], NC_000007.13:g.77292261GGAA[11]
13.
rs1491099507 has merged into rs34311590 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:77671194
(GRCh38)
7:77300511
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77671179:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:77671179:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:77671179:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:77671179:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:77671179:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:77671179:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77671179:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77671179:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77671179:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- APTR (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.0968/373
(ALSPAC)
T=0.4545/2276
(1000Genomes)
T=0.475/19
(GENOME_DK)
- HGVS:
NC_000007.14:g.77671194_77671199del, NC_000007.14:g.77671196_77671199del, NC_000007.14:g.77671197_77671199del, NC_000007.14:g.77671198_77671199del, NC_000007.14:g.77671199del, NC_000007.14:g.77671199dup, NC_000007.14:g.77671198_77671199dup, NC_000007.14:g.77671197_77671199dup, NC_000007.14:g.77671196_77671199dup, NC_000007.13:g.77300511_77300516del, NC_000007.13:g.77300513_77300516del, NC_000007.13:g.77300514_77300516del, NC_000007.13:g.77300515_77300516del, NC_000007.13:g.77300516del, NC_000007.13:g.77300516dup, NC_000007.13:g.77300515_77300516dup, NC_000007.13:g.77300514_77300516dup, NC_000007.13:g.77300513_77300516dup
15.
rs1491092269 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 7:77691624
(GRCh38)
7:77320941
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77691623:CA:
- Gene:
- APTR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01228/199
(
ALFA)
-=0.00216/186
(GnomAD)
- HGVS:
16.
rs1491072353 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAGGGAGAGAG
[Show Flanks]
- Chromosome:
- 7:77663109
(GRCh38)
7:77292427
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77663109:AG:AGGAGGGAGAGAG
- Gene:
- APTR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
AGGAGGGAGAG=0.001781/231
(GnomAD)
- HGVS:
17.
rs1491035852 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 7:77660674
(GRCh38)
7:77289991
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77660673:AG:
- Gene:
- APTR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
18.
rs1491017672 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AG,T
[Show Flanks]
- Chromosome:
- 7:77660674
(GRCh38)
7:77289992
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77660674::AG,NC_000007.14:77660674::T
- Gene:
- APTR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
AG=0.00011/2
(TOMMO)
- HGVS:
19.
rs1490998275 has merged into rs1468435274 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 7:77691623
(GRCh38)
7:77320940
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77691622:CC:C,NC_000007.14:77691622:CC:CCC
- Gene:
- APTR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCC=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
20.
rs1490774940 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 7:77658194
(GRCh38)
7:77287511
(GRCh37)
- Canonical SPDI:
- NC_000007.14:77658193:GA:
- Gene:
- APTR (Varview), LOC105375363 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000007/1
(GnomAD)
- HGVS: