Links from Gene
Items: 1 to 20 of 1000
1.
rs1491585788 has merged into rs71042273 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AA,AAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:15901867
(GRCh38)
12:16054801
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15901860:AAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000012.12:15901860:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:15901860:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:15901860:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:15901860:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:15901860:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:15901860:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:15901860:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:15901860:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:15901860:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:15901860:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:15901860:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:15901860:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- STRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
A=0.4085/2046
(1000Genomes)
A=0.45/18
(GENOME_DK)
- HGVS:
NC_000012.12:g.15901867_15901880del, NC_000012.12:g.15901869_15901880del, NC_000012.12:g.15901871_15901880del, NC_000012.12:g.15901874_15901880del, NC_000012.12:g.15901876_15901880del, NC_000012.12:g.15901877_15901880del, NC_000012.12:g.15901878_15901880del, NC_000012.12:g.15901879_15901880del, NC_000012.12:g.15901880del, NC_000012.12:g.15901880dup, NC_000012.12:g.15901879_15901880dup, NC_000012.12:g.15901878_15901880dup, NC_000012.12:g.15901877_15901880dup, NC_000012.11:g.16054801_16054814del, NC_000012.11:g.16054803_16054814del, NC_000012.11:g.16054805_16054814del, NC_000012.11:g.16054808_16054814del, NC_000012.11:g.16054810_16054814del, NC_000012.11:g.16054811_16054814del, NC_000012.11:g.16054812_16054814del, NC_000012.11:g.16054813_16054814del, NC_000012.11:g.16054814del, NC_000012.11:g.16054814dup, NC_000012.11:g.16054813_16054814dup, NC_000012.11:g.16054812_16054814dup, NC_000012.11:g.16054811_16054814dup
2.
rs1491574985 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATATATAAAA
[Show Flanks]
- Chromosome:
- 12:15893478
(GRCh38)
12:16046413
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15893478:ATATATAAAA:ATATATAAAAATATATAAAA
- Gene:
- STRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATATAAAAATATATAAAA=0./0
(
ALFA)
ATATATAAAA=0.000011/3
(TOPMED)
- HGVS:
4.
rs1491481112 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 12:15881797
(GRCh38)
12:16034731
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15881796:TG:
- Gene:
- STRAP (Varview), LOC102724146 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
5.
rs1491402905 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 12:15893484
(GRCh38)
12:16046418
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15893477:TATATATA:TATATA
- Gene:
- STRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1491221075 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:15885181
(GRCh38)
12:16038116
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15885181:TTTTTTTTT:TTTTTTTTTGTTTTTTTTT
- Gene:
- STRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTTTTTGTTTTTTTTT=0.00008/1
(
ALFA)
- HGVS:
7.
rs1491201880 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 12:15893188
(GRCh38)
12:16046123
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15893188:A:AA
- Gene:
- STRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1491181251 has merged into rs749702060 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:15885190
(GRCh38)
12:16038124
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:15885180:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- STRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.35/14
(GENOME_DK)
- HGVS:
NC_000012.12:g.15885190_15885205del, NC_000012.12:g.15885193_15885205del, NC_000012.12:g.15885194_15885205del, NC_000012.12:g.15885195_15885205del, NC_000012.12:g.15885196_15885205del, NC_000012.12:g.15885197_15885205del, NC_000012.12:g.15885198_15885205del, NC_000012.12:g.15885199_15885205del, NC_000012.12:g.15885200_15885205del, NC_000012.12:g.15885201_15885205del, NC_000012.12:g.15885202_15885205del, NC_000012.12:g.15885203_15885205del, NC_000012.12:g.15885204_15885205del, NC_000012.12:g.15885205del, NC_000012.12:g.15885205dup, NC_000012.12:g.15885204_15885205dup, NC_000012.12:g.15885203_15885205dup, NC_000012.12:g.15885202_15885205dup, NC_000012.12:g.15885201_15885205dup, NC_000012.12:g.15885200_15885205dup, NC_000012.12:g.15885199_15885205dup, NC_000012.12:g.15885198_15885205dup, NC_000012.12:g.15885197_15885205dup, NC_000012.12:g.15885196_15885205dup, NC_000012.12:g.15885195_15885205dup, NC_000012.12:g.15885194_15885205dup, NC_000012.12:g.15885193_15885205dup, NC_000012.12:g.15885192_15885205dup, NC_000012.12:g.15885191_15885205dup, NC_000012.12:g.15885190_15885205dup, NC_000012.12:g.15885189_15885205dup, NC_000012.11:g.16038124_16038139del, NC_000012.11:g.16038127_16038139del, NC_000012.11:g.16038128_16038139del, NC_000012.11:g.16038129_16038139del, NC_000012.11:g.16038130_16038139del, NC_000012.11:g.16038131_16038139del, NC_000012.11:g.16038132_16038139del, NC_000012.11:g.16038133_16038139del, NC_000012.11:g.16038134_16038139del, NC_000012.11:g.16038135_16038139del, NC_000012.11:g.16038136_16038139del, NC_000012.11:g.16038137_16038139del, NC_000012.11:g.16038138_16038139del, NC_000012.11:g.16038139del, NC_000012.11:g.16038139dup, NC_000012.11:g.16038138_16038139dup, NC_000012.11:g.16038137_16038139dup, NC_000012.11:g.16038136_16038139dup, NC_000012.11:g.16038135_16038139dup, NC_000012.11:g.16038134_16038139dup, NC_000012.11:g.16038133_16038139dup, NC_000012.11:g.16038132_16038139dup, NC_000012.11:g.16038131_16038139dup, NC_000012.11:g.16038130_16038139dup, NC_000012.11:g.16038129_16038139dup, NC_000012.11:g.16038128_16038139dup, NC_000012.11:g.16038127_16038139dup, NC_000012.11:g.16038126_16038139dup, NC_000012.11:g.16038125_16038139dup, NC_000012.11:g.16038124_16038139dup, NC_000012.11:g.16038123_16038139dup
9.
rs1491089808 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 12:15886062
(GRCh38)
12:16038996
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15886061:AT:
- Gene:
- STRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.00005/7
(GnomAD)
-=0.000091/24
(TOPMED)
-=0.000259/1
(ALSPAC)
-=0.000539/2
(TWINSUK)
- HGVS:
10.
rs1490921302 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:15888957
(GRCh38)
12:16041891
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15888956:A:G
- Gene:
- STRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
11.
rs1490888333 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:15903165
(GRCh38)
12:16056099
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15903164:A:G
- Gene:
- STRAP (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490585466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:15889105
(GRCh38)
12:16042039
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15889104:T:G
- Gene:
- STRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490402685 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:15881685
(GRCh38)
12:16034619
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15881684:C:T
- Gene:
- STRAP (Varview), LOC102724146 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
14.
rs1490095392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:15887939
(GRCh38)
12:16040873
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15887938:T:A
- Gene:
- STRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490090097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:15880986
(GRCh38)
12:16033920
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15880985:T:C
- Gene:
- STRAP (Varview), LOC102724146 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.001027/3
(KOREAN)
- HGVS:
16.
rs1490084410 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AATATAAAATACTTT>-
[Show Flanks]
- Chromosome:
- 12:15893713
(GRCh38)
12:16046647
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15893712:AATATAAAATACTTT:
- Gene:
- STRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489928241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:15881399
(GRCh38)
12:16034333
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15881398:A:T
- Gene:
- STRAP (Varview), LOC102724146 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
18.
rs1489897750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:15882066
(GRCh38)
12:16035000
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15882065:A:C
- Gene:
- STRAP (Varview), LOC102724146 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
19.
rs1489826547 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTT>-
[Show Flanks]
- Chromosome:
- 12:15902508
(GRCh38)
12:16055442
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15902504:CTTCTT:CTT
- Gene:
- STRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTTCTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
20.
rs1489799582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:15887561
(GRCh38)
12:16040495
(GRCh37)
- Canonical SPDI:
- NC_000012.12:15887560:A:C
- Gene:
- STRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS: