Links from Gene
Items: 1 to 20 of 1000
1.
rs1491581232 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTACAT,GTAT,GTATAT,GTATATAT,GTATATATAT,GTATATATATATATAT
[Show Flanks]
- Chromosome:
- 12:45039277
(GRCh38)
12:45433061
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45039277:T:TGTACAT,NC_000012.12:45039277:T:TGTAT,NC_000012.12:45039277:T:TGTATAT,NC_000012.12:45039277:T:TGTATATAT,NC_000012.12:45039277:T:TGTATATATAT,NC_000012.12:45039277:T:TGTATATATATATATAT
- Gene:
- DBX2 (Varview), LOC105369742 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.45039278_45039279insGTACAT, NC_000012.12:g.45039278_45039279insGTAT, NC_000012.12:g.45039278_45039279insGTATAT, NC_000012.12:g.45039278_45039279insGTATATAT, NC_000012.12:g.45039278_45039279insGTATATATAT, NC_000012.12:g.45039278_45039279insGTATATATATATATAT, NC_000012.11:g.45433061_45433062insGTACAT, NC_000012.11:g.45433061_45433062insGTAT, NC_000012.11:g.45433061_45433062insGTATAT, NC_000012.11:g.45433061_45433062insGTATATAT, NC_000012.11:g.45433061_45433062insGTATATATAT, NC_000012.11:g.45433061_45433062insGTATATATATATATAT
2.
rs1491542081 has merged into rs34462401 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 12:45049675
(GRCh38)
12:45443458
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- DBX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.4466/251
(NorthernSweden)
- HGVS:
NC_000012.12:g.45049675_45049677del, NC_000012.12:g.45049676_45049677del, NC_000012.12:g.45049677del, NC_000012.12:g.45049677dup, NC_000012.12:g.45049676_45049677dup, NC_000012.12:g.45049675_45049677dup, NC_000012.11:g.45443458_45443460del, NC_000012.11:g.45443459_45443460del, NC_000012.11:g.45443460del, NC_000012.11:g.45443460dup, NC_000012.11:g.45443459_45443460dup, NC_000012.11:g.45443458_45443460dup
3.
rs1491513562 has merged into rs58371508 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 12:45039287
(GRCh38)
12:45433070
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:45039277:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- DBX2 (Varview), LOC105369742 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATAT=0./0
(
ALFA)
TATATATATATATATA=0./0
(GENOME_DK)
- HGVS:
NC_000012.12:g.45039279AT[4], NC_000012.12:g.45039279AT[5], NC_000012.12:g.45039279AT[6], NC_000012.12:g.45039279AT[7], NC_000012.12:g.45039279AT[8], NC_000012.12:g.45039279AT[9], NC_000012.12:g.45039279AT[10], NC_000012.12:g.45039279AT[11], NC_000012.12:g.45039279AT[12], NC_000012.12:g.45039279AT[13], NC_000012.12:g.45039279AT[14], NC_000012.12:g.45039279AT[15], NC_000012.12:g.45039279AT[16], NC_000012.12:g.45039279AT[17], NC_000012.12:g.45039279AT[18], NC_000012.12:g.45039279AT[19], NC_000012.12:g.45039279AT[20], NC_000012.12:g.45039279AT[21], NC_000012.12:g.45039279AT[23], NC_000012.12:g.45039279AT[24], NC_000012.12:g.45039279AT[25], NC_000012.12:g.45039279AT[26], NC_000012.12:g.45039279AT[27], NC_000012.12:g.45039279AT[28], NC_000012.12:g.45039279AT[29], NC_000012.11:g.45433062AT[4], NC_000012.11:g.45433062AT[5], NC_000012.11:g.45433062AT[6], NC_000012.11:g.45433062AT[7], NC_000012.11:g.45433062AT[8], NC_000012.11:g.45433062AT[9], NC_000012.11:g.45433062AT[10], NC_000012.11:g.45433062AT[11], NC_000012.11:g.45433062AT[12], NC_000012.11:g.45433062AT[13], NC_000012.11:g.45433062AT[14], NC_000012.11:g.45433062AT[15], NC_000012.11:g.45433062AT[16], NC_000012.11:g.45433062AT[17], NC_000012.11:g.45433062AT[18], NC_000012.11:g.45433062AT[19], NC_000012.11:g.45433062AT[20], NC_000012.11:g.45433062AT[21], NC_000012.11:g.45433062AT[23], NC_000012.11:g.45433062AT[24], NC_000012.11:g.45433062AT[25], NC_000012.11:g.45433062AT[26], NC_000012.11:g.45433062AT[27], NC_000012.11:g.45433062AT[28], NC_000012.11:g.45433062AT[29]
4.
rs1491510672 has merged into rs34462401 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 12:45049675
(GRCh38)
12:45443458
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- DBX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.4466/251
(NorthernSweden)
- HGVS:
NC_000012.12:g.45049675_45049677del, NC_000012.12:g.45049676_45049677del, NC_000012.12:g.45049677del, NC_000012.12:g.45049677dup, NC_000012.12:g.45049676_45049677dup, NC_000012.12:g.45049675_45049677dup, NC_000012.11:g.45443458_45443460del, NC_000012.11:g.45443459_45443460del, NC_000012.11:g.45443460del, NC_000012.11:g.45443460dup, NC_000012.11:g.45443459_45443460dup, NC_000012.11:g.45443458_45443460dup
5.
rs1491473105 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATATATA
[Show Flanks]
- Chromosome:
- 12:45039278
(GRCh38)
12:45433062
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45039278:ATATATA:ATATATACATATATA
- Gene:
- DBX2 (Varview), LOC105369742 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATATACATATATA=0./0
(
ALFA)
ATATATAC=0.00049/2
(GnomAD)
- HGVS:
6.
rs1491418036 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 12:45019779
(GRCh38)
12:45413563
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45019779:AAAAAA:AAAAAAA
- Gene:
- DBX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
7.
rs1491416835 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT,GTGT
[Show Flanks]
- Chromosome:
- 12:45039276
(GRCh38)
12:45433060
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45039276:GT:GTGT,NC_000012.12:45039276:GT:GTGTGT
- Gene:
- DBX2 (Varview), LOC105369742 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGT=0.00062/10
(
ALFA)
GT=0.04023/671
(TOMMO)
- HGVS:
9.
rs1491263461 has merged into rs1555141173 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA,CACACA,CACACACA
[Show Flanks]
- Chromosome:
- 12:45020704
(GRCh38)
12:45414487
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45020690:ACACACACACACACACA:ACACACACACACA,NC_000012.12:45020690:ACACACACACACACACA:ACACACACACACACA,NC_000012.12:45020690:ACACACACACACACACA:ACACACACACACACACACA,NC_000012.12:45020690:ACACACACACACACACA:ACACACACACACACACACACA
- Gene:
- DBX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
AC=0.001093/2
(Korea1K)
AC=0.061489/228
(TWINSUK)
AC=0.071095/274
(ALSPAC)
- HGVS:
10.
rs1491252677 has merged into rs3990142 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACAC>-,AC,ACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC
[Show Flanks]
- Chromosome:
- 12:45034138
(GRCh38)
12:45427921
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45034128:CACACACACACACAC:CACACACAC,NC_000012.12:45034128:CACACACACACACAC:CACACACACAC,NC_000012.12:45034128:CACACACACACACAC:CACACACACACAC,NC_000012.12:45034128:CACACACACACACAC:CACACACACACACACAC,NC_000012.12:45034128:CACACACACACACAC:CACACACACACACACACAC,NC_000012.12:45034128:CACACACACACACAC:CACACACACACACACACACAC,NC_000012.12:45034128:CACACACACACACAC:CACACACACACACACACACACAC
- Gene:
- DBX2 (Varview), LOC105369742 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACAC=0./0
(
ALFA)
CA=0.4229/2118
(1000Genomes)
CA=0.45/18
(GENOME_DK)
CA=0.4667/280
(NorthernSweden)
- HGVS:
NC_000012.12:g.45034130AC[4], NC_000012.12:g.45034130AC[5], NC_000012.12:g.45034130AC[6], NC_000012.12:g.45034130AC[8], NC_000012.12:g.45034130AC[9], NC_000012.12:g.45034130AC[10], NC_000012.12:g.45034130AC[11], NC_000012.11:g.45427913AC[4], NC_000012.11:g.45427913AC[5], NC_000012.11:g.45427913AC[6], NC_000012.11:g.45427913AC[8], NC_000012.11:g.45427913AC[9], NC_000012.11:g.45427913AC[10], NC_000012.11:g.45427913AC[11]
11.
rs1491212054 has merged into rs113442613 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 12:45031215
(GRCh38)
12:45424998
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:45031191:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- DBX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
GTGTGTGTGTGT=0.125/5
(GENOME_DK)
- HGVS:
NC_000012.12:g.45031193TG[11], NC_000012.12:g.45031193TG[12], NC_000012.12:g.45031193TG[13], NC_000012.12:g.45031193TG[14], NC_000012.12:g.45031193TG[15], NC_000012.12:g.45031193TG[16], NC_000012.12:g.45031193TG[18], NC_000012.12:g.45031193TG[19], NC_000012.12:g.45031193TG[20], NC_000012.12:g.45031193TG[21], NC_000012.12:g.45031193TG[22], NC_000012.12:g.45031193TG[23], NC_000012.12:g.45031193TG[24], NC_000012.12:g.45031193TG[25], NC_000012.12:g.45031193TG[26], NC_000012.12:g.45031193TG[27], NC_000012.12:g.45031193TG[29], NC_000012.11:g.45424976TG[11], NC_000012.11:g.45424976TG[12], NC_000012.11:g.45424976TG[13], NC_000012.11:g.45424976TG[14], NC_000012.11:g.45424976TG[15], NC_000012.11:g.45424976TG[16], NC_000012.11:g.45424976TG[18], NC_000012.11:g.45424976TG[19], NC_000012.11:g.45424976TG[20], NC_000012.11:g.45424976TG[21], NC_000012.11:g.45424976TG[22], NC_000012.11:g.45424976TG[23], NC_000012.11:g.45424976TG[24], NC_000012.11:g.45424976TG[25], NC_000012.11:g.45424976TG[26], NC_000012.11:g.45424976TG[27], NC_000012.11:g.45424976TG[29]
12.
rs1491210506 has merged into rs755254560 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 12:45052214
(GRCh38)
12:45445998
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45052214:TGTGT:TGTGTGT,NC_000012.12:45052214:TGTGT:TGTGTGTGT,NC_000012.12:45052214:TGTGT:TGTGTGTGTGT,NC_000012.12:45052214:TGTGT:TGTGTGTGTGTGT,NC_000012.12:45052214:TGTGT:TGTGTGTGTGTGTGT,NC_000012.12:45052214:TGTGT:TGTGTGTGTGTGTGTGTGT
- Gene:
- DBX2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.45052216GT[3], NC_000012.12:g.45052216GT[4], NC_000012.12:g.45052216GT[5], NC_000012.12:g.45052216GT[6], NC_000012.12:g.45052216GT[7], NC_000012.12:g.45052216GT[9], NC_000012.11:g.45445999GT[3], NC_000012.11:g.45445999GT[4], NC_000012.11:g.45445999GT[5], NC_000012.11:g.45445999GT[6], NC_000012.11:g.45445999GT[7], NC_000012.11:g.45445999GT[9]
13.
rs1491155972 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 12:45034144
(GRCh38)
12:45427927
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45034142:CGC:C
- Gene:
- DBX2 (Varview), LOC105369742 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0257/99
(ALSPAC)
-=0.031/115
(TWINSUK)
- HGVS:
14.
rs1491137257 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 12:45039277
(GRCh38)
12:45433060
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45039276:GT:
- Gene:
- DBX2 (Varview), LOC105369742 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00046/29
(GnomAD)
- HGVS:
15.
rs1491050284 has merged into rs200211880 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT,GTGTGT
[Show Flanks]
- Chromosome:
- 12:45039323
(GRCh38)
12:45433106
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45039321:TGT:T,NC_000012.12:45039321:TGT:TGTGT,NC_000012.12:45039321:TGT:TGTGTGT
- Gene:
- DBX2 (Varview), LOC105369742 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
-=0.01976/36
(Korea1K)
-=0.05595/936
(TOMMO)
- HGVS:
16.
rs1491038992 has merged into rs34462401 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 12:45049675
(GRCh38)
12:45443458
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:45049662:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- DBX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.4466/251
(NorthernSweden)
- HGVS:
NC_000012.12:g.45049675_45049677del, NC_000012.12:g.45049676_45049677del, NC_000012.12:g.45049677del, NC_000012.12:g.45049677dup, NC_000012.12:g.45049676_45049677dup, NC_000012.12:g.45049675_45049677dup, NC_000012.11:g.45443458_45443460del, NC_000012.11:g.45443459_45443460del, NC_000012.11:g.45443460del, NC_000012.11:g.45443460dup, NC_000012.11:g.45443459_45443460dup, NC_000012.11:g.45443458_45443460dup
17.
rs1491020371 has merged into rs10649840 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATA>-,TATA,TATATATA,TATATATATA,TATATATATACGTATATATATATATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATGTATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 12:45020686
(GRCh38)
12:45414469
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45020675:TATATATATATATATA:TATATATATA,NC_000012.12:45020675:TATATATATATATATA:TATATATATATATA,NC_000012.12:45020675:TATATATATATATATA:TATATATATATATATATA,NC_000012.12:45020675:TATATATATATATATA:TATATATATATATATATATA,NC_000012.12:45020675:TATATATATATATATA:TATATATATATATATATATACGTATATATATATATATATATA,NC_000012.12:45020675:TATATATATATATATA:TATATATATATATATATATATA,NC_000012.12:45020675:TATATATATATATATA:TATATATATATATATATATATATA,NC_000012.12:45020675:TATATATATATATATA:TATATATATATATATATATATATATA,NC_000012.12:45020675:TATATATATATATATA:TATATATATATATATATATATATATATA,NC_000012.12:45020675:TATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000012.12:45020675:TATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000012.12:45020675:TATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000012.12:45020675:TATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000012.12:45020675:TATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000012.12:45020675:TATATATATATATATA:TATATATATATATATATATATGTATATATATATATATATATA
- Gene:
- DBX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATATATACGTATATATATATATATATATA=0./0
(
ALFA)
TATATATATATATATATATATGTATA=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.45020676TA[5], NC_000012.12:g.45020676TA[7], NC_000012.12:g.45020676TA[9], NC_000012.12:g.45020676TA[10], NC_000012.12:g.45020676_45020691TA[10]CGTATATATATATATATATATA[1], NC_000012.12:g.45020676TA[11], NC_000012.12:g.45020676TA[12], NC_000012.12:g.45020676TA[13], NC_000012.12:g.45020676TA[14], NC_000012.12:g.45020676TA[15], NC_000012.12:g.45020676TA[16], NC_000012.12:g.45020676TA[17], NC_000012.12:g.45020676TA[18], NC_000012.12:g.45020676TA[19], NC_000012.12:g.45020676_45020691TA[10]TGTATATATATATATATATATA[1], NC_000012.11:g.45414459TA[5], NC_000012.11:g.45414459TA[7], NC_000012.11:g.45414459TA[9], NC_000012.11:g.45414459TA[10], NC_000012.11:g.45414459_45414474TA[10]CGTATATATATATATATATATA[1], NC_000012.11:g.45414459TA[11], NC_000012.11:g.45414459TA[12], NC_000012.11:g.45414459TA[13], NC_000012.11:g.45414459TA[14], NC_000012.11:g.45414459TA[15], NC_000012.11:g.45414459TA[16], NC_000012.11:g.45414459TA[17], NC_000012.11:g.45414459TA[18], NC_000012.11:g.45414459TA[19], NC_000012.11:g.45414459_45414474TA[10]TGTATATATATATATATATATA[1]
18.
rs1491007609 has merged into rs71437703 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 12:45052236
(GRCh38)
12:45446019
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45052220:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000012.12:45052220:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000012.12:45052220:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000012.12:45052220:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45052220:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45052220:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45052220:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45052220:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45052220:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45052220:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:45052220:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- DBX2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.45052222GT[7], NC_000012.12:g.45052222GT[8], NC_000012.12:g.45052222GT[9], NC_000012.12:g.45052222GT[10], NC_000012.12:g.45052222GT[11], NC_000012.12:g.45052222GT[13], NC_000012.12:g.45052222GT[14], NC_000012.12:g.45052222GT[15], NC_000012.12:g.45052222GT[16], NC_000012.12:g.45052222GT[17], NC_000012.12:g.45052222GT[19], NC_000012.11:g.45446005GT[7], NC_000012.11:g.45446005GT[8], NC_000012.11:g.45446005GT[9], NC_000012.11:g.45446005GT[10], NC_000012.11:g.45446005GT[11], NC_000012.11:g.45446005GT[13], NC_000012.11:g.45446005GT[14], NC_000012.11:g.45446005GT[15], NC_000012.11:g.45446005GT[16], NC_000012.11:g.45446005GT[17], NC_000012.11:g.45446005GT[19]
19.
rs1490897879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:45018719
(GRCh38)
12:45412502
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45018718:T:C
- Gene:
- DBX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000054/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
20.
rs1490849771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:45033925
(GRCh38)
12:45427708
(GRCh37)
- Canonical SPDI:
- NC_000012.12:45033924:G:A,NC_000012.12:45033924:G:C
- Gene:
- DBX2 (Varview), LOC105369742 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_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: