Links from Gene
Items: 1 to 20 of 1000
1.
rs1491579833 has merged into rs70946958 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 2:36888656
(GRCh38)
2:37115799
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:36888639:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- STRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.4497/2252
(1000Genomes)
- HGVS:
NC_000002.12:g.36888640TG[8], NC_000002.12:g.36888640TG[9], NC_000002.12:g.36888640TG[10], NC_000002.12:g.36888640TG[11], NC_000002.12:g.36888640TG[12], NC_000002.12:g.36888640TG[13], NC_000002.12:g.36888640TG[14], NC_000002.12:g.36888640TG[15], NC_000002.12:g.36888640TG[17], NC_000002.12:g.36888640TG[18], NC_000002.12:g.36888640TG[19], NC_000002.12:g.36888640TG[20], NC_000002.12:g.36888640TG[21], NC_000002.12:g.36888640TG[22], NC_000002.12:g.36888640TG[23], NC_000002.12:g.36888640TG[24], NC_000002.12:g.36888640TG[25], NC_000002.12:g.36888640TG[26], NC_000002.11:g.37115783TG[8], NC_000002.11:g.37115783TG[9], NC_000002.11:g.37115783TG[10], NC_000002.11:g.37115783TG[11], NC_000002.11:g.37115783TG[12], NC_000002.11:g.37115783TG[13], NC_000002.11:g.37115783TG[14], NC_000002.11:g.37115783TG[15], NC_000002.11:g.37115783TG[17], NC_000002.11:g.37115783TG[18], NC_000002.11:g.37115783TG[19], NC_000002.11:g.37115783TG[20], NC_000002.11:g.37115783TG[21], NC_000002.11:g.37115783TG[22], NC_000002.11:g.37115783TG[23], NC_000002.11:g.37115783TG[24], NC_000002.11:g.37115783TG[25], NC_000002.11:g.37115783TG[26]
2.
rs1491565693 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AG,CG
[Show Flanks]
- Chromosome:
- 2:36964181
(GRCh38)
2:37191325
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36964181:G:GAG,NC_000002.12:36964181:G:GCG
- Gene:
- STRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GCG=0./0
(
ALFA)
GC=0.00004/1
(TOMMO)
- HGVS:
3.
rs1491546319 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 2:36915232
(GRCh38)
2:37142375
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36915230:AAA:A
- Gene:
- STRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00017/2
(
ALFA)
-=0.00033/22
(GnomAD)
- HGVS:
5.
rs1491532103 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 2:36966036
(GRCh38)
2:37193179
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36966034:GTG:G
- Gene:
- STRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
7.
rs1491501554 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:36846386
(GRCh38)
2:37073530
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36846386::A
- Gene:
- STRN (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.00014/8
(GnomAD)
A=0.00025/4
(TOMMO)
A=0.00062/4
(1000Genomes)
A=0.00119/2
(Korea1K)
- HGVS:
NC_000002.12:g.36846386_36846387insA, NC_000002.11:g.37073529_37073530insA, XM_005264519.6:c.*3069_*3070insT, XM_005264519.4:c.*3069_*3070insT, XM_005264519.3:c.*3069_*3070insT, XM_005264519.2:c.*3069_*3070insT, XM_005264519.1:c.*3069_*3070insT, NM_003162.4:c.*3069_*3070insT, NM_003162.3:c.*3069_*3070insT, XM_011533073.3:c.*3069_*3070insT, XM_011533073.2:c.*3069_*3070insT, XM_011533073.1:c.*3069_*3070insT
8.
rs1491497510 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:36927536
(GRCh38)
2:37154680
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36927536:T:TT
- Gene:
- STRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000145/17
(GnomAD)
- HGVS:
9.
rs1491495746 has merged into rs398090259 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 2:36933092
(GRCh38)
2:37160235
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36933085:ATATATAT:ATATAT,NC_000002.12:36933085:ATATATAT:ATATATATAT
- Gene:
- STRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATAT=0.00547/86
(
ALFA)
-=0.01672/10
(NorthernSweden)
-=0.02439/94
(ALSPAC)
-=0.025/1
(GENOME_DK)
-=0.02505/25
(GoNL)
-=0.02508/93
(TWINSUK)
-=0.03234/542
(TOMMO)
-=0.05731/105
(Korea1K)
- HGVS:
10.
rs1491474054 has merged into rs58092417 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,GGG,GGGG,GGGGG
[Show Flanks]
- Chromosome:
- 2:36964190
(GRCh38)
2:37191333
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36964185:GGGGGG:GGGG,NC_000002.12:36964185:GGGGGG:GGGGGGG,NC_000002.12:36964185:GGGGGG:GGGGGGGG,NC_000002.12:36964185:GGGGGG:GGGGGGGGG
- Gene:
- STRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0./0
(
ALFA)
GGG=0.000004/1
(TOPMED)
- HGVS:
11.
rs1491458598 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 2:36846429
(GRCh38)
2:37073572
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36846428:AG:
- Gene:
- STRN (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000169/2
(
ALFA)
-=0./0
(Korea1K)
-=0.000298/5
(TOMMO)
-=0.00055/60
(GnomAD)
- HGVS:
NC_000002.12:g.36846429_36846430del, NC_000002.11:g.37073572_37073573del, XM_005264519.6:c.*3026_*3027del, XM_005264519.4:c.*3026_*3027del, XM_005264519.3:c.*3026_*3027del, XM_005264519.2:c.*3026_*3027del, XM_005264519.1:c.*3026_*3027del, NM_003162.4:c.*3026_*3027del, NM_003162.3:c.*3026_*3027del, XM_011533073.3:c.*3026_*3027del, XM_011533073.2:c.*3026_*3027del, XM_011533073.1:c.*3026_*3027del
12.
rs1491443441 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,C
[Show Flanks]
- Chromosome:
- 2:36927525
(GRCh38)
2:37154669
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36927525::A,NC_000002.12:36927525::C
- Gene:
- STRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00047/6
(TOMMO)
- HGVS:
13.
rs1491440274 has merged into rs59891421 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:36937348
(GRCh38)
2:37164491
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36937342:AAAAAAAAAAAAAAAA:AAAAA,NC_000002.12:36937342:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:36937342:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:36937342:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:36937342:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:36937342:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:36937342:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:36937342:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:36937342:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:36937342:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:36937342:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:36937342:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:36937342:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- STRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
A=0./0
(ALSPAC)
A=0.0003/1
(TWINSUK)
- HGVS:
NC_000002.12:g.36937348_36937358del, NC_000002.12:g.36937351_36937358del, NC_000002.12:g.36937353_36937358del, NC_000002.12:g.36937355_36937358del, NC_000002.12:g.36937356_36937358del, NC_000002.12:g.36937357_36937358del, NC_000002.12:g.36937358del, NC_000002.12:g.36937358dup, NC_000002.12:g.36937357_36937358dup, NC_000002.12:g.36937356_36937358dup, NC_000002.12:g.36937355_36937358dup, NC_000002.12:g.36937354_36937358dup, NC_000002.12:g.36937351_36937358dup, NC_000002.11:g.37164491_37164501del, NC_000002.11:g.37164494_37164501del, NC_000002.11:g.37164496_37164501del, NC_000002.11:g.37164498_37164501del, NC_000002.11:g.37164499_37164501del, NC_000002.11:g.37164500_37164501del, NC_000002.11:g.37164501del, NC_000002.11:g.37164501dup, NC_000002.11:g.37164500_37164501dup, NC_000002.11:g.37164499_37164501dup, NC_000002.11:g.37164498_37164501dup, NC_000002.11:g.37164497_37164501dup, NC_000002.11:g.37164494_37164501dup
14.
rs1491426827 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:36876285
(GRCh38)
2:37103428
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36876284:AT:
- Gene:
- STRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00031/2
(1000Genomes)
- HGVS:
16.
rs1491389601 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:36896820
(GRCh38)
2:37123963
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36896819:CA:
- Gene:
- STRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
18.
rs1491344923 has merged into rs1410318768 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTTT
[Show Flanks]
- Chromosome:
- 2:36846387
(GRCh38)
2:37073530
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36846385:TTT:T,NC_000002.12:36846385:TTT:TTTTT
- Gene:
- STRN (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0.00006/1
(
ALFA)
-=0.00021/6
(TOMMO)
-=0.00031/2
(1000Genomes)
-=0.0024/58
(GnomAD)
- HGVS:
NC_000002.12:g.36846387_36846388del, NC_000002.12:g.36846387_36846388dup, NC_000002.11:g.37073530_37073531del, NC_000002.11:g.37073530_37073531dup, XM_005264519.6:c.*3069_*3070del, XM_005264519.6:c.*3069_*3070dup, XM_005264519.4:c.*3069_*3070del, XM_005264519.4:c.*3069_*3070dup, XM_005264519.3:c.*3069_*3070del, XM_005264519.3:c.*3069_*3070dup, XM_005264519.2:c.*3069_*3070del, XM_005264519.2:c.*3069_*3070dup, XM_005264519.1:c.*3069_*3070del, XM_005264519.1:c.*3069_*3070dup, NM_003162.4:c.*3069_*3070del, NM_003162.4:c.*3069_*3070dup, NM_003162.3:c.*3069_*3070del, NM_003162.3:c.*3069_*3070dup, XM_011533073.3:c.*3069_*3070del, XM_011533073.3:c.*3069_*3070dup, XM_011533073.2:c.*3069_*3070del, XM_011533073.2:c.*3069_*3070dup, XM_011533073.1:c.*3069_*3070del, XM_011533073.1:c.*3069_*3070dup
19.
rs1491330630 has merged into rs58092417 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,GGG,GGGG,GGGGG
[Show Flanks]
- Chromosome:
- 2:36964190
(GRCh38)
2:37191333
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36964185:GGGGGG:GGGG,NC_000002.12:36964185:GGGGGG:GGGGGGG,NC_000002.12:36964185:GGGGGG:GGGGGGGG,NC_000002.12:36964185:GGGGGG:GGGGGGGGG
- Gene:
- STRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0./0
(
ALFA)
GGG=0.000004/1
(TOPMED)
- HGVS:
20.
rs1491329819 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 2:36954516
(GRCh38)
2:37181659
(GRCh37)
- Canonical SPDI:
- NC_000002.12:36954515:AG:
- Gene:
- STRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.00003/3
(GnomAD)
- HGVS: