Links from Gene
Items: 1 to 20 of 1000
1.
rs1491504293 has merged into rs200897796 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:86606672
(GRCh38)
2:86833795
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86606662:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AA=0.0031/12
(ALSPAC)
AA=0.0035/13
(TWINSUK)
-=0.425/17
(GENOME_DK)
- HGVS:
NC_000002.12:g.86606672_86606687del, NC_000002.12:g.86606674_86606687del, NC_000002.12:g.86606675_86606687del, NC_000002.12:g.86606676_86606687del, NC_000002.12:g.86606677_86606687del, NC_000002.12:g.86606678_86606687del, NC_000002.12:g.86606680_86606687del, NC_000002.12:g.86606681_86606687del, NC_000002.12:g.86606682_86606687del, NC_000002.12:g.86606683_86606687del, NC_000002.12:g.86606684_86606687del, NC_000002.12:g.86606685_86606687del, NC_000002.12:g.86606686_86606687del, NC_000002.12:g.86606687del, NC_000002.12:g.86606687dup, NC_000002.12:g.86606686_86606687dup, NC_000002.12:g.86606685_86606687dup, NC_000002.12:g.86606684_86606687dup, NC_000002.12:g.86606683_86606687dup, NC_000002.12:g.86606682_86606687dup, NC_000002.12:g.86606681_86606687dup, NC_000002.12:g.86606680_86606687dup, NC_000002.12:g.86606679_86606687dup, NC_000002.12:g.86606678_86606687dup, NC_000002.12:g.86606677_86606687dup, NC_000002.12:g.86606675_86606687dup, NC_000002.12:g.86606674_86606687dup, NC_000002.12:g.86606672_86606687dup, NC_000002.12:g.86606687_86606688insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.86606687_86606688insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.86606687_86606688insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.86833795_86833810del, NC_000002.11:g.86833797_86833810del, NC_000002.11:g.86833798_86833810del, NC_000002.11:g.86833799_86833810del, NC_000002.11:g.86833800_86833810del, NC_000002.11:g.86833801_86833810del, NC_000002.11:g.86833803_86833810del, NC_000002.11:g.86833804_86833810del, NC_000002.11:g.86833805_86833810del, NC_000002.11:g.86833806_86833810del, NC_000002.11:g.86833807_86833810del, NC_000002.11:g.86833808_86833810del, NC_000002.11:g.86833809_86833810del, NC_000002.11:g.86833810del, NC_000002.11:g.86833810dup, NC_000002.11:g.86833809_86833810dup, NC_000002.11:g.86833808_86833810dup, NC_000002.11:g.86833807_86833810dup, NC_000002.11:g.86833806_86833810dup, NC_000002.11:g.86833805_86833810dup, NC_000002.11:g.86833804_86833810dup, NC_000002.11:g.86833803_86833810dup, NC_000002.11:g.86833802_86833810dup, NC_000002.11:g.86833801_86833810dup, NC_000002.11:g.86833800_86833810dup, NC_000002.11:g.86833798_86833810dup, NC_000002.11:g.86833797_86833810dup, NC_000002.11:g.86833795_86833810dup, NC_000002.11:g.86833810_86833811insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.86833810_86833811insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.86833810_86833811insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
2.
rs1491116108 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:86606662
(GRCh38)
2:86833785
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86606661:CA:
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.0054/64
(
ALFA)
-=0.00252/71
(TOMMO)
- HGVS:
3.
rs1491068435 has merged into rs36001734 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 2:86611024
(GRCh38)
2:86838147
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86611010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:86611010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:86611010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:86611010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:86611010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:86611010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.375/15
(GENOME_DK)
A=0.4573/268
(NorthernSweden)
A=0.496/2484
(1000Genomes)
- HGVS:
NC_000002.12:g.86611024_86611026del, NC_000002.12:g.86611025_86611026del, NC_000002.12:g.86611026del, NC_000002.12:g.86611026dup, NC_000002.12:g.86611025_86611026dup, NC_000002.12:g.86611024_86611026dup, NC_000002.11:g.86838147_86838149del, NC_000002.11:g.86838148_86838149del, NC_000002.11:g.86838149del, NC_000002.11:g.86838149dup, NC_000002.11:g.86838148_86838149dup, NC_000002.11:g.86838147_86838149dup
4.
rs1491017126 has merged into rs36075624 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:86602953
(GRCh38)
2:86830076
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86602940:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.86602953_86602961del, NC_000002.12:g.86602954_86602961del, NC_000002.12:g.86602955_86602961del, NC_000002.12:g.86602956_86602961del, NC_000002.12:g.86602957_86602961del, NC_000002.12:g.86602958_86602961del, NC_000002.12:g.86602960_86602961del, NC_000002.12:g.86602961del, NC_000002.12:g.86602961dup, NC_000002.12:g.86602960_86602961dup, NC_000002.12:g.86602959_86602961dup, NC_000002.12:g.86602958_86602961dup, NC_000002.12:g.86602957_86602961dup, NC_000002.12:g.86602956_86602961dup, NC_000002.12:g.86602955_86602961dup, NC_000002.12:g.86602954_86602961dup, NC_000002.12:g.86602948_86602961dup, NC_000002.12:g.86602947_86602961dup, NC_000002.12:g.86602946_86602961dup, NC_000002.12:g.86602945_86602961dup, NC_000002.12:g.86602944_86602961dup, NC_000002.12:g.86602943_86602961dup, NC_000002.12:g.86602941_86602961dup, NC_000002.12:g.86602961_86602962insAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.86602961_86602962insAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.86602961_86602962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.86830076_86830084del, NC_000002.11:g.86830077_86830084del, NC_000002.11:g.86830078_86830084del, NC_000002.11:g.86830079_86830084del, NC_000002.11:g.86830080_86830084del, NC_000002.11:g.86830081_86830084del, NC_000002.11:g.86830083_86830084del, NC_000002.11:g.86830084del, NC_000002.11:g.86830084dup, NC_000002.11:g.86830083_86830084dup, NC_000002.11:g.86830082_86830084dup, NC_000002.11:g.86830081_86830084dup, NC_000002.11:g.86830080_86830084dup, NC_000002.11:g.86830079_86830084dup, NC_000002.11:g.86830078_86830084dup, NC_000002.11:g.86830077_86830084dup, NC_000002.11:g.86830071_86830084dup, NC_000002.11:g.86830070_86830084dup, NC_000002.11:g.86830069_86830084dup, NC_000002.11:g.86830068_86830084dup, NC_000002.11:g.86830067_86830084dup, NC_000002.11:g.86830066_86830084dup, NC_000002.11:g.86830064_86830084dup, NC_000002.11:g.86830084_86830085insAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.86830084_86830085insAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.86830084_86830085insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1490944216 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:86613929
(GRCh38)
2:86841052
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86613928:G:A,NC_000002.12:86613928:G:T
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
A=0.000566/9
(TOMMO)
A=0.001092/2
(Korea1K)
A=0.002738/8
(KOREAN)
- HGVS:
6.
rs1490907181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:86609277
(GRCh38)
2:86836400
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86609276:A:T
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490471632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:86607788
(GRCh38)
2:86834911
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86607787:T:C
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490417940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:86608778
(GRCh38)
2:86835901
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86608777:A:G
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489980191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:86607236
(GRCh38)
2:86834359
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86607235:A:C
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_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:
10.
rs1489966797 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 2:86616017
(GRCh38)
2:86843140
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86616016:AA:A
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000042/11
(TOPMED)
- HGVS:
11.
rs1489960778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:86613720
(GRCh38)
2:86840843
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86613719:T:C
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_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:
12.
rs1489924130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:86608412
(GRCh38)
2:86835535
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86608411:A:G
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/2
(GnomAD)
- HGVS:
13.
rs1489788599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:86615613
(GRCh38)
2:86842736
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86615612:T:C
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000038/10
(TOPMED)
- HGVS:
14.
rs1489720813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:86603821
(GRCh38)
2:86830944
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86603820:A:C
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
C=0.000009/2
(GnomAD_exomes)
- HGVS:
15.
rs1489585731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:86603556
(GRCh38)
2:86830679
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86603555:G:A
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1489474891 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-
[Show Flanks]
- Chromosome:
- 2:86606757
(GRCh38)
2:86833880
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86606754:TTTTT:TT
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
17.
rs1489470633 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:86618215
(GRCh38)
2:86845338
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86618214:C:G
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489422822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:86603824
(GRCh38)
2:86830947
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86603823:A:C
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000009/2
(GnomAD_exomes)
- HGVS:
19.
rs1489332839 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 2:86603167
(GRCh38)
2:86830290
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86603166:T:
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
20.
rs1489237022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:86617823
(GRCh38)
2:86844946
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86617822:C:T
- Gene:
- RNF103 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: