Links from Gene
Items: 1 to 20 of 8624
1.
rs1491566160 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TATATATATATAT
[Show Flanks]
- Chromosome:
- 19:3145337
(GRCh38)
19:3145336
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3145337:TATATATATATAT:TATATATATATATTATATATATATAT
- Gene:
- GNA15 (Varview), GNA15-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATATATATATATTATATATATATAT=0./0
(
ALFA)
TATATATATATAT=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491531954 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 19:3134889
(GRCh38)
19:3134887
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3134887:CAC:C
- Gene:
- GNA15 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491511845 has merged into rs71179976 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:3145368
(GRCh38)
19:3145366
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GNA15 (Varview), GNA15-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.3145368_3145372del, NC_000019.10:g.3145369_3145372del, NC_000019.10:g.3145370_3145372del, NC_000019.10:g.3145371_3145372del, NC_000019.10:g.3145372del, NC_000019.10:g.3145372dup, NC_000019.10:g.3145371_3145372dup, NC_000019.10:g.3145370_3145372dup, NC_000019.10:g.3145369_3145372dup, NC_000019.10:g.3145368_3145372dup, NC_000019.10:g.3145367_3145372dup, NC_000019.10:g.3145366_3145372dup, NC_000019.10:g.3145365_3145372dup, NC_000019.10:g.3145364_3145372dup, NC_000019.10:g.3145361_3145372dup, NC_000019.9:g.3145366_3145370del, NC_000019.9:g.3145367_3145370del, NC_000019.9:g.3145368_3145370del, NC_000019.9:g.3145369_3145370del, NC_000019.9:g.3145370del, NC_000019.9:g.3145370dup, NC_000019.9:g.3145369_3145370dup, NC_000019.9:g.3145368_3145370dup, NC_000019.9:g.3145367_3145370dup, NC_000019.9:g.3145366_3145370dup, NC_000019.9:g.3145365_3145370dup, NC_000019.9:g.3145364_3145370dup, NC_000019.9:g.3145363_3145370dup, NC_000019.9:g.3145362_3145370dup, NC_000019.9:g.3145359_3145370dup
4.
rs1491352979 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GC
[Show Flanks]
- Chromosome:
- 19:3156430
(GRCh38)
19:3156429
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3156430:GC:GCGC
- Gene:
- GNA15 (Varview), GNA15-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGC=0./0
(
ALFA)
GC=0.000016/2
(GnomAD)
GC=0.00003/8
(TOPMED)
GC=0.000106/2
(TOMMO)
- HGVS:
5.
rs1491330051 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CC
[Show Flanks]
- Chromosome:
- 19:3134885
(GRCh38)
19:3134884
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3134885::CC
- Gene:
- GNA15 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
CC=0.000004/1
(TOPMED)
- HGVS:
6.
rs1491326694 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 19:3156430
(GRCh38)
19:3156428
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3156429:TG:
- Gene:
- GNA15 (Varview), GNA15-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.002973/50
(TOMMO)
- HGVS:
7.
rs1491289568 has merged into rs35737557 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:3139612
(GRCh38)
19:3139610
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GNA15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3061/1533
(1000Genomes)
- HGVS:
NC_000019.10:g.3139612_3139617del, NC_000019.10:g.3139614_3139617del, NC_000019.10:g.3139615_3139617del, NC_000019.10:g.3139616_3139617del, NC_000019.10:g.3139617del, NC_000019.10:g.3139617dup, NC_000019.10:g.3139616_3139617dup, NC_000019.10:g.3139615_3139617dup, NC_000019.10:g.3139607_3139617dup, NC_000019.9:g.3139610_3139615del, NC_000019.9:g.3139612_3139615del, NC_000019.9:g.3139613_3139615del, NC_000019.9:g.3139614_3139615del, NC_000019.9:g.3139615del, NC_000019.9:g.3139615dup, NC_000019.9:g.3139614_3139615dup, NC_000019.9:g.3139613_3139615dup, NC_000019.9:g.3139605_3139615dup
9.
rs1491184908 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 19:3134888
(GRCh38)
19:3134887
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3134888::CT
- Gene:
- GNA15 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
CT=0.000064/9
(GnomAD)
- HGVS:
10.
rs1491181156 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 19:3134886
(GRCh38)
19:3134884
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3134884:GTG:G
- Gene:
- GNA15 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000064/9
(GnomAD)
- HGVS:
11.
rs1491108892 has merged into rs1191752115 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 19:3145353
(GRCh38)
19:3145351
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- GNA15 (Varview), GNA15-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATAT=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.3145337AT[8], NC_000019.10:g.3145337AT[9], NC_000019.10:g.3145337AT[10], NC_000019.10:g.3145337AT[11], NC_000019.10:g.3145337AT[13], NC_000019.10:g.3145337AT[14], NC_000019.10:g.3145337AT[15], NC_000019.10:g.3145337AT[16], NC_000019.10:g.3145337AT[17], NC_000019.10:g.3145337AT[18], NC_000019.10:g.3145337AT[19], NC_000019.10:g.3145337AT[20], NC_000019.10:g.3145337AT[21], NC_000019.10:g.3145337AT[22], NC_000019.10:g.3145337AT[23], NC_000019.10:g.3145337AT[24], NC_000019.10:g.3145337AT[25], NC_000019.10:g.3145337AT[26], NC_000019.9:g.3145335AT[8], NC_000019.9:g.3145335AT[9], NC_000019.9:g.3145335AT[10], NC_000019.9:g.3145335AT[11], NC_000019.9:g.3145335AT[13], NC_000019.9:g.3145335AT[14], NC_000019.9:g.3145335AT[15], NC_000019.9:g.3145335AT[16], NC_000019.9:g.3145335AT[17], NC_000019.9:g.3145335AT[18], NC_000019.9:g.3145335AT[19], NC_000019.9:g.3145335AT[20], NC_000019.9:g.3145335AT[21], NC_000019.9:g.3145335AT[22], NC_000019.9:g.3145335AT[23], NC_000019.9:g.3145335AT[24], NC_000019.9:g.3145335AT[25], NC_000019.9:g.3145335AT[26]
12.
rs1491081023 has merged into rs143429911 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:3138802
(GRCh38)
19:3138800
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3138797:TTTTTTTTTTTTTT:TTTT,NC_000019.10:3138797:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:3138797:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:3138797:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:3138797:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:3138797:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:3138797:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- GNA15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.3138802_3138811del, NC_000019.10:g.3138810_3138811del, NC_000019.10:g.3138811del, NC_000019.10:g.3138811dup, NC_000019.10:g.3138810_3138811dup, NC_000019.10:g.3138809_3138811dup, NC_000019.10:g.3138808_3138811dup, NC_000019.9:g.3138800_3138809del, NC_000019.9:g.3138808_3138809del, NC_000019.9:g.3138809del, NC_000019.9:g.3138809dup, NC_000019.9:g.3138808_3138809dup, NC_000019.9:g.3138807_3138809dup, NC_000019.9:g.3138806_3138809dup
14.
rs1490930243 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATACA>-
[Show Flanks]
- Chromosome:
- 19:3135883
(GRCh38)
19:3135881
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3135881:ATATATATATACA:A
- Gene:
- GNA15 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00115/50
(GnomAD)
-=0.00346/6
(Korea1K)
-=0.01104/182
(TOMMO)
- HGVS:
15.
rs1490769326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:3152574
(GRCh38)
19:3152572
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3152573:C:A
- Gene:
- GNA15 (Varview), GNA15-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490626611 has merged into rs112224395 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:3159354
(GRCh38)
19:3159352
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- GNA15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.3159354_3159363del, NC_000019.10:g.3159356_3159363del, NC_000019.10:g.3159357_3159363del, NC_000019.10:g.3159358_3159363del, NC_000019.10:g.3159359_3159363del, NC_000019.10:g.3159360_3159363del, NC_000019.10:g.3159361_3159363del, NC_000019.10:g.3159362_3159363del, NC_000019.10:g.3159363del, NC_000019.10:g.3159363dup, NC_000019.10:g.3159362_3159363dup, NC_000019.10:g.3159361_3159363dup, NC_000019.9:g.3159352_3159361del, NC_000019.9:g.3159354_3159361del, NC_000019.9:g.3159355_3159361del, NC_000019.9:g.3159356_3159361del, NC_000019.9:g.3159357_3159361del, NC_000019.9:g.3159358_3159361del, NC_000019.9:g.3159359_3159361del, NC_000019.9:g.3159360_3159361del, NC_000019.9:g.3159361del, NC_000019.9:g.3159361dup, NC_000019.9:g.3159360_3159361dup, NC_000019.9:g.3159359_3159361dup
19.
rs1490544494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:3143171
(GRCh38)
19:3143169
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3143170:C:A,NC_000019.10:3143170:C:T
- Gene:
- GNA15 (Varview), GNA15-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490477064 has merged into rs1310550380 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 19:3146735
(GRCh38)
19:3146733
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3146734:CCCCCC:CCCCC,NC_000019.10:3146734:CCCCCC:CCCCCCC
- Gene:
- GNA15 (Varview), GNA15-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCC=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS: