Links from Gene
Items: 1 to 20 of 861
1.
rs1491255831 has merged into rs59277153 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:96750931
(GRCh38)
10:98510688
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.225/9
(GENOME_DK)
- HGVS:
NC_000010.11:g.96750931_96750949del, NC_000010.11:g.96750932_96750949del, NC_000010.11:g.96750933_96750949del, NC_000010.11:g.96750934_96750949del, NC_000010.11:g.96750935_96750949del, NC_000010.11:g.96750937_96750949del, NC_000010.11:g.96750938_96750949del, NC_000010.11:g.96750939_96750949del, NC_000010.11:g.96750940_96750949del, NC_000010.11:g.96750941_96750949del, NC_000010.11:g.96750942_96750949del, NC_000010.11:g.96750943_96750949del, NC_000010.11:g.96750944_96750949del, NC_000010.11:g.96750945_96750949del, NC_000010.11:g.96750946_96750949del, NC_000010.11:g.96750947_96750949del, NC_000010.11:g.96750948_96750949del, NC_000010.11:g.96750949del, NC_000010.11:g.96750949dup, NC_000010.11:g.96750948_96750949dup, NC_000010.11:g.96750947_96750949dup, NC_000010.11:g.96750946_96750949dup, NC_000010.11:g.96750945_96750949dup, NC_000010.11:g.96750944_96750949dup, NC_000010.11:g.96750943_96750949dup, NC_000010.11:g.96750942_96750949dup, NC_000010.11:g.96750941_96750949dup, NC_000010.11:g.96750940_96750949dup, NC_000010.11:g.96750935_96750949dup, NC_000010.11:g.96750934_96750949dup, NC_000010.11:g.96750933_96750949dup, NC_000010.11:g.96750932_96750949dup, NC_000010.11:g.96750931_96750949dup, NC_000010.11:g.96750930_96750949dup, NC_000010.11:g.96750949_96750950insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.96750924_96750949A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000010.10:g.98510688_98510706del, NC_000010.10:g.98510689_98510706del, NC_000010.10:g.98510690_98510706del, NC_000010.10:g.98510691_98510706del, NC_000010.10:g.98510692_98510706del, NC_000010.10:g.98510694_98510706del, NC_000010.10:g.98510695_98510706del, NC_000010.10:g.98510696_98510706del, NC_000010.10:g.98510697_98510706del, NC_000010.10:g.98510698_98510706del, NC_000010.10:g.98510699_98510706del, NC_000010.10:g.98510700_98510706del, NC_000010.10:g.98510701_98510706del, NC_000010.10:g.98510702_98510706del, NC_000010.10:g.98510703_98510706del, NC_000010.10:g.98510704_98510706del, NC_000010.10:g.98510705_98510706del, NC_000010.10:g.98510706del, NC_000010.10:g.98510706dup, NC_000010.10:g.98510705_98510706dup, NC_000010.10:g.98510704_98510706dup, NC_000010.10:g.98510703_98510706dup, NC_000010.10:g.98510702_98510706dup, NC_000010.10:g.98510701_98510706dup, NC_000010.10:g.98510700_98510706dup, NC_000010.10:g.98510699_98510706dup, NC_000010.10:g.98510698_98510706dup, NC_000010.10:g.98510697_98510706dup, NC_000010.10:g.98510692_98510706dup, NC_000010.10:g.98510691_98510706dup, NC_000010.10:g.98510690_98510706dup, NC_000010.10:g.98510689_98510706dup, NC_000010.10:g.98510688_98510706dup, NC_000010.10:g.98510687_98510706dup, NC_000010.10:g.98510706_98510707insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98510681_98510706A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
3.
rs1490903278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:96750345
(GRCh38)
10:98510102
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96750344:G:A
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490412598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:96751015
(GRCh38)
10:98510772
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96751014:A:G
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000084/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490396860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:96749274
(GRCh38)
10:98509031
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96749273:A:G
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000156/1
(1000Genomes)
G=0.000223/1
(Estonian)
- HGVS:
6.
rs1489149592 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 10:96750453
(GRCh38)
10:98510210
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96750452:G:C
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1485993627 has merged into rs67243439 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:96749077
(GRCh38)
10:98508834
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.96749077_96749086del, NC_000010.11:g.96749079_96749086del, NC_000010.11:g.96749080_96749086del, NC_000010.11:g.96749081_96749086del, NC_000010.11:g.96749082_96749086del, NC_000010.11:g.96749083_96749086del, NC_000010.11:g.96749084_96749086del, NC_000010.11:g.96749085_96749086del, NC_000010.11:g.96749086del, NC_000010.11:g.96749086dup, NC_000010.11:g.96749085_96749086dup, NC_000010.11:g.96749084_96749086dup, NC_000010.11:g.96749083_96749086dup, NC_000010.11:g.96749082_96749086dup, NC_000010.11:g.96749081_96749086dup, NC_000010.11:g.96749080_96749086dup, NC_000010.11:g.96749079_96749086dup, NC_000010.11:g.96749078_96749086dup, NC_000010.11:g.96749077_96749086dup, NC_000010.11:g.96749076_96749086dup, NC_000010.11:g.96749075_96749086dup, NC_000010.11:g.96749074_96749086dup, NC_000010.11:g.96749072_96749086dup, NC_000010.11:g.96749071_96749086dup, NC_000010.11:g.96749070_96749086dup, NC_000010.11:g.96749086_96749087insAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.96749086_96749087insAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.96749086_96749087insAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.96749086_96749087insAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.96749086_96749087insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.96749086_96749087insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.96749086_96749087insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98508834_98508843del, NC_000010.10:g.98508836_98508843del, NC_000010.10:g.98508837_98508843del, NC_000010.10:g.98508838_98508843del, NC_000010.10:g.98508839_98508843del, NC_000010.10:g.98508840_98508843del, NC_000010.10:g.98508841_98508843del, NC_000010.10:g.98508842_98508843del, NC_000010.10:g.98508843del, NC_000010.10:g.98508843dup, NC_000010.10:g.98508842_98508843dup, NC_000010.10:g.98508841_98508843dup, NC_000010.10:g.98508840_98508843dup, NC_000010.10:g.98508839_98508843dup, NC_000010.10:g.98508838_98508843dup, NC_000010.10:g.98508837_98508843dup, NC_000010.10:g.98508836_98508843dup, NC_000010.10:g.98508835_98508843dup, NC_000010.10:g.98508834_98508843dup, NC_000010.10:g.98508833_98508843dup, NC_000010.10:g.98508832_98508843dup, NC_000010.10:g.98508831_98508843dup, NC_000010.10:g.98508829_98508843dup, NC_000010.10:g.98508828_98508843dup, NC_000010.10:g.98508827_98508843dup, NC_000010.10:g.98508843_98508844insAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98508843_98508844insAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98508843_98508844insAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98508843_98508844insAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98508843_98508844insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98508843_98508844insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98508843_98508844insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
9.
rs1485880559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 10:96749908
(GRCh38)
10:98509665
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96749907:G:A,NC_000010.11:96749907:G:C
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
A=0.000312/2
(1000Genomes)
- HGVS:
11.
rs1485235070 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAAAAGAAA>-,AGAAA,AGAAAAGAAAAGAAA
[Show Flanks]
- Chromosome:
- 10:96749086
(GRCh38)
10:98508843
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96749082:AAAAGAAAAGAAA:AAA,NC_000010.11:96749082:AAAAGAAAAGAAA:AAAAGAAA,NC_000010.11:96749082:AAAAGAAAAGAAA:AAAAGAAAAGAAAAGAAA
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAGAAA=0.00012/2
(
ALFA)
- HGVS:
12.
rs1484340713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:96750549
(GRCh38)
10:98510306
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96750548:C:T
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
T=0.000546/1
(Korea1K)
- HGVS:
13.
rs1483545785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:96750642
(GRCh38)
10:98510399
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96750641:G:A
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
14.
rs1483441992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 10:96751263
(GRCh38)
10:98511020
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96751262:C:G
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
15.
rs1482889232 has merged into rs554396325 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:96750114
(GRCh38)
10:98509871
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.1599/801
(1000Genomes)
- HGVS:
NC_000010.11:g.96750114_96750120del, NC_000010.11:g.96750117_96750120del, NC_000010.11:g.96750118_96750120del, NC_000010.11:g.96750119_96750120del, NC_000010.11:g.96750120del, NC_000010.11:g.96750120dup, NC_000010.11:g.96750119_96750120dup, NC_000010.11:g.96750118_96750120dup, NC_000010.11:g.96750117_96750120dup, NC_000010.11:g.96750116_96750120dup, NC_000010.11:g.96750115_96750120dup, NC_000010.11:g.96750114_96750120dup, NC_000010.11:g.96750113_96750120dup, NC_000010.11:g.96750112_96750120dup, NC_000010.11:g.96750111_96750120dup, NC_000010.11:g.96750108_96750120dup, NC_000010.10:g.98509871_98509877del, NC_000010.10:g.98509874_98509877del, NC_000010.10:g.98509875_98509877del, NC_000010.10:g.98509876_98509877del, NC_000010.10:g.98509877del, NC_000010.10:g.98509877dup, NC_000010.10:g.98509876_98509877dup, NC_000010.10:g.98509875_98509877dup, NC_000010.10:g.98509874_98509877dup, NC_000010.10:g.98509873_98509877dup, NC_000010.10:g.98509872_98509877dup, NC_000010.10:g.98509871_98509877dup, NC_000010.10:g.98509870_98509877dup, NC_000010.10:g.98509869_98509877dup, NC_000010.10:g.98509868_98509877dup, NC_000010.10:g.98509865_98509877dup
16.
rs1481905701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:96750378
(GRCh38)
10:98510135
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96750377:C:T
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1481471129 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:96749139
(GRCh38)
10:98508896
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96749138:T:C
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000022/3
(GnomAD)
- HGVS:
18.
rs1480627168 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:96751378
(GRCh38)
10:98511135
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96751377:G:A
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1480562263 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAAAAGAAAGAAAAAA>-
[Show Flanks]
- Chromosome:
- 10:96749087
(GRCh38)
10:98508844
(GRCh37)
- Canonical SPDI:
- NC_000010.11:96749080:AAAAAAGAAAAGAAAGAAAAAA:AAAAAA
- Gene:
- RPL13AP5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0.000422/5
(
ALFA)
-=0.000683/93
(GnomAD)
- HGVS: