Links from Gene
Items: 1 to 20 of 1000
2.
rs1491582755 has merged into rs200408228 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA,TATATA,TATATAATATAAATATATATATATATATATATATATATATATATATATATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATCTATATATATATATATA,TATATATATATATATGATATATATATATATATATATATATA,TATATATATATATATGTATATATATATATATATATA,TATATGAAATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 2:165477497
(GRCh38)
2:166334007
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165477483:ATATATATATATATA:ATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATAATATAAATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATATATCTATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATGATATATATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATATATATATATGTATATATATATATATATATA,NC_000002.12:165477483:ATATATATATATATA:ATATATATATATATATATGAAATATATATATATATATATA
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATATATA=0./0
(
ALFA)
ATAT=0.26923/161
(NorthernSweden)
- HGVS:
NC_000002.12:g.165477485TA[6], NC_000002.12:g.165477485TA[8], NC_000002.12:g.165477485TA[9], NC_000002.12:g.165477484_165477498AT[9]AATATA[2]TA[18], NC_000002.12:g.165477485TA[10], NC_000002.12:g.165477485TA[11], NC_000002.12:g.165477485TA[12], NC_000002.12:g.165477485TA[13], NC_000002.12:g.165477485TA[14], NC_000002.12:g.165477485TA[15], NC_000002.12:g.165477485TA[16], NC_000002.12:g.165477485TA[17], NC_000002.12:g.165477485TA[18], NC_000002.12:g.165477485TA[19], NC_000002.12:g.165477485TA[20], NC_000002.12:g.165477485TA[21], NC_000002.12:g.165477485TA[22], NC_000002.12:g.165477485TA[23], NC_000002.12:g.165477485TA[24], NC_000002.12:g.165477485TA[25], NC_000002.12:g.165477485TA[26], NC_000002.12:g.165477485TA[27], NC_000002.12:g.165477485TA[28], NC_000002.12:g.165477484_165477498AT[16]CTATATATATATATATA[1], NC_000002.12:g.165477484_165477498AT[14]GATATATATATATATATATATATATA[1], NC_000002.12:g.165477484_165477498AT[14]GTATATATATATATATATATA[1], NC_000002.12:g.165477484_165477498AT[9]GAAATATATATATATATATATA[1], NC_000002.11:g.166333995TA[6], NC_000002.11:g.166333995TA[8], NC_000002.11:g.166333995TA[9], NC_000002.11:g.166333994_166334008AT[9]AATATA[2]TA[18], NC_000002.11:g.166333995TA[10], NC_000002.11:g.166333995TA[11], NC_000002.11:g.166333995TA[12], NC_000002.11:g.166333995TA[13], NC_000002.11:g.166333995TA[14], NC_000002.11:g.166333995TA[15], NC_000002.11:g.166333995TA[16], NC_000002.11:g.166333995TA[17], NC_000002.11:g.166333995TA[18], NC_000002.11:g.166333995TA[19], NC_000002.11:g.166333995TA[20], NC_000002.11:g.166333995TA[21], NC_000002.11:g.166333995TA[22], NC_000002.11:g.166333995TA[23], NC_000002.11:g.166333995TA[24], NC_000002.11:g.166333995TA[25], NC_000002.11:g.166333995TA[26], NC_000002.11:g.166333995TA[27], NC_000002.11:g.166333995TA[28], NC_000002.11:g.166333994_166334008AT[16]CTATATATATATATATA[1], NC_000002.11:g.166333994_166334008AT[14]GATATATATATATATATATATATATA[1], NC_000002.11:g.166333994_166334008AT[14]GTATATATATATATATATATA[1], NC_000002.11:g.166333994_166334008AT[9]GAAATATATATATATATATATA[1]
3.
rs1491572691 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:165592802
(GRCh38)
2:166449312
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165592801:AT:
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.001517/18
(
ALFA)
-=0.00261/320
(GnomAD)
- HGVS:
4.
rs1491536047 has merged into rs34523205 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 2:165592818
(GRCh38)
2:166449328
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165592802:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:165592802:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:165592802:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:165592802:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:165592802:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:165592802:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.165592818_165592819del, NC_000002.12:g.165592819del, NC_000002.12:g.165592819dup, NC_000002.12:g.165592818_165592819dup, NC_000002.12:g.165592817_165592819dup, NC_000002.12:g.165592816_165592819dup, NC_000002.11:g.166449328_166449329del, NC_000002.11:g.166449329del, NC_000002.11:g.166449329dup, NC_000002.11:g.166449328_166449329dup, NC_000002.11:g.166449327_166449329dup, NC_000002.11:g.166449326_166449329dup
5.
rs1491530238 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAG>-,AG,AGAGAG
[Show Flanks]
- Chromosome:
- 2:165666556
(GRCh38)
2:166523066
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165666551:AGAGAGAG:AGAG,NC_000002.12:165666551:AGAGAGAG:AGAGAG,NC_000002.12:165666551:AGAGAGAG:AGAGAGAGAG
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAG=0./0
(
ALFA)
-=0.00005/2
(GnomAD)
AG=0.00006/1
(TOMMO)
- HGVS:
6.
rs1491513009 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AAA,AAATAGA,ACA,AGA,ATA,ATACA,ATACATATATATATATATTATATACATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATTA,ATTATA,ATTATATA,ATTATATACA,ATTATATACATA,ATTATATACATATA
[Show Flanks]
- Chromosome:
- 2:165520783
(GRCh38)
2:166377294
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165520783::A,NC_000002.12:165520783::AAA,NC_000002.12:165520783::AAATAGA,NC_000002.12:165520783::ACA,NC_000002.12:165520783::AGA,NC_000002.12:165520783::ATA,NC_000002.12:165520783::ATACA,NC_000002.12:165520783::ATACATATATATATATATTATATACATA,NC_000002.12:165520783::ATATA,NC_000002.12:165520783::ATATATA,NC_000002.12:165520783::ATATATATA,NC_000002.12:165520783::ATATATATATA,NC_000002.12:165520783::ATATATATATATA,NC_000002.12:165520783::ATTA,NC_000002.12:165520783::ATTATA,NC_000002.12:165520783::ATTATATA,NC_000002.12:165520783::ATTATATACA,NC_000002.12:165520783::ATTATATACATA,NC_000002.12:165520783::ATTATATACATATA
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
ATTATATACATATA=0.000004/1
(TOPMED)
A=0.006936/114
(TOMMO)
- HGVS:
NC_000002.12:g.165520783_165520784insA, NC_000002.12:g.165520783_165520784insAAA, NC_000002.12:g.165520783_165520784insAAATAGA, NC_000002.12:g.165520783_165520784insACA, NC_000002.12:g.165520783_165520784insAGA, NC_000002.12:g.165520783_165520784insATA, NC_000002.12:g.165520783_165520784insATACA, NC_000002.12:g.165520783_165520784insATACATATATATATATATTATATACATA, NC_000002.12:g.165520783_165520784insATATA, NC_000002.12:g.165520783_165520784insATATATA, NC_000002.12:g.165520783_165520784insATATATATA, NC_000002.12:g.165520783_165520784insATATATATATA, NC_000002.12:g.165520783_165520784insATATATATATATA, NC_000002.12:g.165520783_165520784insATTA, NC_000002.12:g.165520783_165520784insATTATA, NC_000002.12:g.165520783_165520784insATTATATA, NC_000002.12:g.165520783_165520784insATTATATACA, NC_000002.12:g.165520783_165520784insATTATATACATA, NC_000002.12:g.165520783_165520784insATTATATACATATA, NC_000002.11:g.166377293_166377294insA, NC_000002.11:g.166377293_166377294insAAA, NC_000002.11:g.166377293_166377294insAAATAGA, NC_000002.11:g.166377293_166377294insACA, NC_000002.11:g.166377293_166377294insAGA, NC_000002.11:g.166377293_166377294insATA, NC_000002.11:g.166377293_166377294insATACA, NC_000002.11:g.166377293_166377294insATACATATATATATATATTATATACATA, NC_000002.11:g.166377293_166377294insATATA, NC_000002.11:g.166377293_166377294insATATATA, NC_000002.11:g.166377293_166377294insATATATATA, NC_000002.11:g.166377293_166377294insATATATATATA, NC_000002.11:g.166377293_166377294insATATATATATATA, NC_000002.11:g.166377293_166377294insATTA, NC_000002.11:g.166377293_166377294insATTATA, NC_000002.11:g.166377293_166377294insATTATATA, NC_000002.11:g.166377293_166377294insATTATATACA, NC_000002.11:g.166377293_166377294insATTATATACATA, NC_000002.11:g.166377293_166377294insATTATATACATATA
7.
rs1491495032 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 2:165615888
(GRCh38)
2:166472398
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165615887:GT:
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000009/1
(GnomAD)
- HGVS:
9.
rs1491477406 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GG
[Show Flanks]
- Chromosome:
- 2:165666392
(GRCh38)
2:166522903
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165666392::GG
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.00025/3
(
ALFA)
GG=0.00032/11
(GnomAD)
- HGVS:
10.
rs1491466833 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:165592801
(GRCh38)
2:166449311
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165592800:CA:
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00057/9
(TOMMO)
- HGVS:
11.
rs1491465506 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 2:165667102
(GRCh38)
2:166523612
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165667101:GG:
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00021/6
(GnomAD)
- HGVS:
12.
rs1491453037 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 2:165500466
(GRCh38)
2:166356976
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165500463:TTTT:TT
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0166/64
(ALSPAC)
-=0.034/126
(TWINSUK)
- HGVS:
13.
rs1491436755 has merged into rs1553484557 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA
[Show Flanks]
- Chromosome:
- 2:165667085
(GRCh38)
2:166523595
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165667083:AAA:A,NC_000002.12:165667083:AAA:AAAAA
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00038/22
(GnomAD)
- HGVS:
14.
rs1491436408 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 2:165665774
(GRCh38)
2:166522285
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165665774::G
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000157/18
(GnomAD)
- HGVS:
15.
rs1491426485 has merged into rs34615804 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:165677596
(GRCh38)
2:166534106
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165677583:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:165677583:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:165677583:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:165677583:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:165677583:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:165677583:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:165677583:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:165677583:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4391/2199
(1000Genomes)
- HGVS:
NC_000002.12:g.165677596_165677599del, NC_000002.12:g.165677597_165677599del, NC_000002.12:g.165677598_165677599del, NC_000002.12:g.165677599del, NC_000002.12:g.165677599dup, NC_000002.12:g.165677598_165677599dup, NC_000002.12:g.165677597_165677599dup, NC_000002.12:g.165677591_165677599dup, NC_000002.11:g.166534106_166534109del, NC_000002.11:g.166534107_166534109del, NC_000002.11:g.166534108_166534109del, NC_000002.11:g.166534109del, NC_000002.11:g.166534109dup, NC_000002.11:g.166534108_166534109dup, NC_000002.11:g.166534107_166534109dup, NC_000002.11:g.166534101_166534109dup
16.
rs1491404640 has merged into rs10645178 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGAGAGAGAGAGAGA>-,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
[Show Flanks]
- Chromosome:
- 2:165665787
(GRCh38)
2:166522297
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:165665775:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGAGA=0./0
(
ALFA)
AG=0.24121/1208
(1000Genomes)
- HGVS:
NC_000002.12:g.165665777GA[5], NC_000002.12:g.165665777GA[7], NC_000002.12:g.165665777GA[8], NC_000002.12:g.165665777GA[9], NC_000002.12:g.165665777GA[10], NC_000002.12:g.165665777GA[11], NC_000002.12:g.165665777GA[12], NC_000002.12:g.165665777GA[14], NC_000002.12:g.165665777GA[15], NC_000002.12:g.165665777GA[16], NC_000002.12:g.165665777GA[17], NC_000002.12:g.165665777GA[18], NC_000002.12:g.165665777GA[19], NC_000002.12:g.165665777GA[20], NC_000002.12:g.165665777GA[21], NC_000002.12:g.165665777GA[22], NC_000002.12:g.165665777GA[23], NC_000002.12:g.165665777GA[24], NC_000002.12:g.165665777GA[25], NC_000002.12:g.165665777GA[26], NC_000002.12:g.165665777GA[27], NC_000002.12:g.165665777GA[29], NC_000002.12:g.165665777GA[30], NC_000002.12:g.165665777GA[31], NC_000002.11:g.166522287GA[5], NC_000002.11:g.166522287GA[7], NC_000002.11:g.166522287GA[8], NC_000002.11:g.166522287GA[9], NC_000002.11:g.166522287GA[10], NC_000002.11:g.166522287GA[11], NC_000002.11:g.166522287GA[12], NC_000002.11:g.166522287GA[14], NC_000002.11:g.166522287GA[15], NC_000002.11:g.166522287GA[16], NC_000002.11:g.166522287GA[17], NC_000002.11:g.166522287GA[18], NC_000002.11:g.166522287GA[19], NC_000002.11:g.166522287GA[20], NC_000002.11:g.166522287GA[21], NC_000002.11:g.166522287GA[22], NC_000002.11:g.166522287GA[23], NC_000002.11:g.166522287GA[24], NC_000002.11:g.166522287GA[25], NC_000002.11:g.166522287GA[26], NC_000002.11:g.166522287GA[27], NC_000002.11:g.166522287GA[29], NC_000002.11:g.166522287GA[30], NC_000002.11:g.166522287GA[31]
17.
rs1491404246 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAAA,TATAAA,TATATAAA,TATATATAAA,TATATATATAAA,TATATATATATAAA,TATATATATATATAAA
[Show Flanks]
- Chromosome:
- 2:165674713
(GRCh38)
2:166531224
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165674713:A:ATAAA,NC_000002.12:165674713:A:ATATAAA,NC_000002.12:165674713:A:ATATATAAA,NC_000002.12:165674713:A:ATATATATAAA,NC_000002.12:165674713:A:ATATATATATAAA,NC_000002.12:165674713:A:ATATATATATATAAA,NC_000002.12:165674713:A:ATATATATATATATAAA
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATAAA=0./0
(
ALFA)
ATATATATATATAA=0.000004/1
(TOPMED)
- HGVS:
NC_000002.12:g.165674714_165674715insTAAA, NC_000002.12:g.165674714AT[2]AAA[1], NC_000002.12:g.165674714AT[3]AAA[1], NC_000002.12:g.165674714AT[4]AAA[1], NC_000002.12:g.165674714AT[5]AAA[1], NC_000002.12:g.165674714AT[6]AAA[1], NC_000002.12:g.165674714AT[7]AAA[1], NC_000002.11:g.166531224_166531225insTAAA, NC_000002.11:g.166531224AT[2]AAA[1], NC_000002.11:g.166531224AT[3]AAA[1], NC_000002.11:g.166531224AT[4]AAA[1], NC_000002.11:g.166531224AT[5]AAA[1], NC_000002.11:g.166531224AT[6]AAA[1], NC_000002.11:g.166531224AT[7]AAA[1]
18.
rs1491400738 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 2:165638048
(GRCh38)
2:166494559
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165638048:ATATATATA:ATATATATATA
- Gene:
- CSRNP3 (Varview), LOC124906085 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATA=0./0
(
ALFA)
AT=0.000004/1
(TOPMED)
AT=0.000007/1
(GnomAD)
- HGVS:
19.
rs1491362940 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 2:165520783
(GRCh38)
2:166377293
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165520782:TT:
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.0001/1
(GnomAD)
- HGVS:
20.
rs1491353830 has merged into rs1178084062 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGG>-,AAGGAAGG
[Show Flanks]
- Chromosome:
- 2:165666184
(GRCh38)
2:166522694
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165666171:AAGGAAGGAAGGAAGG:AAGGAAGGAAGG,NC_000002.12:165666171:AAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGG
- Gene:
- CSRNP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGGAAGGAAGGAAGGAAGG=0./0
(
ALFA)
-=0.001093/2
(Korea1K)
-=0.004234/475
(GnomAD)
-=0.007562/126
(TOMMO)
- HGVS: