Links from Nucleotide
Items: 1 to 20 of 1000
2.
rs1491482427 has merged into rs755798990 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-,TGTG,TGTGTG
[Show Flanks]
- Chromosome:
- 1:156882262
(GRCh38)
1:156852054
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156882247:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000001.11:156882247:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000001.11:156882247:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG
- Gene:
- NTRK1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.00078/13
(TOMMO)
- HGVS:
3.
rs1491436262 has merged into rs35148211 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 1:156863676
(GRCh38)
1:156833468
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156863660:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:156863660:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000001.11:156863660:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000001.11:156863660:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:156863660:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:156863660:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- NTRK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.03006/30
(GoNL)
TG=0.04333/26
(NorthernSweden)
- HGVS:
NC_000001.11:g.156863662GT[7], NC_000001.11:g.156863662GT[8], NC_000001.11:g.156863662GT[9], NC_000001.11:g.156863662GT[11], NC_000001.11:g.156863662GT[12], NC_000001.11:g.156863662GT[13], NC_000001.10:g.156833454GT[7], NC_000001.10:g.156833454GT[8], NC_000001.10:g.156833454GT[9], NC_000001.10:g.156833454GT[11], NC_000001.10:g.156833454GT[12], NC_000001.10:g.156833454GT[13], NG_007493.1:g.52913GT[7], NG_007493.1:g.52913GT[8], NG_007493.1:g.52913GT[9], NG_007493.1:g.52913GT[11], NG_007493.1:g.52913GT[12], NG_007493.1:g.52913GT[13]
4.
rs1491385391 has merged into rs374718649 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 1:156818232
(GRCh38)
1:156788024
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156818231:AAAAAAAAAA:AAAAAAAAA,NC_000001.11:156818231:AAAAAAAAAA:AAAAAAAAAAA
- Gene:
- NTRK1 (Varview), SH2D2A (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.000071/2
(TOMMO)
-=0.007642/14
(Korea1K)
-=0.033746/169
(1000Genomes)
-=0.036684/9710
(TOPMED)
- HGVS:
5.
rs1491355163 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTT
[Show Flanks]
- Chromosome:
- 1:156867672
(GRCh38)
1:156837465
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156867672:TTT:TTTCTTT
- Gene:
- NTRK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTCTTT=0.000084/1
(
ALFA)
TTTC=0.000024/3
(GnomAD)
- HGVS:
6.
rs1491352662 has merged into rs3840456 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTCTCTCTC>-,TC,TCTC,TCTCTC,TCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
[Show Flanks]
- Chromosome:
- 1:156817066
(GRCh38)
1:156786858
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:156817047:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
- Gene:
- NTRK1 (Varview), SH2D2A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTCTCTCTC=0./0
(
ALFA)
-=0./0
(KOREAN)
-=0.4547/2277
(1000Genomes)
- HGVS:
NC_000001.11:g.156817048TC[9], NC_000001.11:g.156817048TC[10], NC_000001.11:g.156817048TC[11], NC_000001.11:g.156817048TC[12], NC_000001.11:g.156817048TC[13], NC_000001.11:g.156817048TC[15], NC_000001.11:g.156817048TC[16], NC_000001.11:g.156817048TC[17], NC_000001.11:g.156817048TC[18], NC_000001.11:g.156817048TC[19], NC_000001.11:g.156817048TC[20], NC_000001.11:g.156817048TC[21], NC_000001.11:g.156817048TC[22], NC_000001.11:g.156817048TC[23], NC_000001.11:g.156817048TC[24], NC_000001.11:g.156817048TC[25], NC_000001.11:g.156817048TC[26], NC_000001.11:g.156817048TC[27], NC_000001.11:g.156817048TC[28], NC_000001.11:g.156817048TC[29], NC_000001.11:g.156817048TC[30], NC_000001.11:g.156817048TC[31], NC_000001.11:g.156817048TC[32], NC_000001.10:g.156786840TC[9], NC_000001.10:g.156786840TC[10], NC_000001.10:g.156786840TC[11], NC_000001.10:g.156786840TC[12], NC_000001.10:g.156786840TC[13], NC_000001.10:g.156786840TC[15], NC_000001.10:g.156786840TC[16], NC_000001.10:g.156786840TC[17], NC_000001.10:g.156786840TC[18], NC_000001.10:g.156786840TC[19], NC_000001.10:g.156786840TC[20], NC_000001.10:g.156786840TC[21], NC_000001.10:g.156786840TC[22], NC_000001.10:g.156786840TC[23], NC_000001.10:g.156786840TC[24], NC_000001.10:g.156786840TC[25], NC_000001.10:g.156786840TC[26], NC_000001.10:g.156786840TC[27], NC_000001.10:g.156786840TC[28], NC_000001.10:g.156786840TC[29], NC_000001.10:g.156786840TC[30], NC_000001.10:g.156786840TC[31], NC_000001.10:g.156786840TC[32], NG_007493.1:g.6299TC[9], NG_007493.1:g.6299TC[10], NG_007493.1:g.6299TC[11], NG_007493.1:g.6299TC[12], NG_007493.1:g.6299TC[13], NG_007493.1:g.6299TC[15], NG_007493.1:g.6299TC[16], NG_007493.1:g.6299TC[17], NG_007493.1:g.6299TC[18], NG_007493.1:g.6299TC[19], NG_007493.1:g.6299TC[20], NG_007493.1:g.6299TC[21], NG_007493.1:g.6299TC[22], NG_007493.1:g.6299TC[23], NG_007493.1:g.6299TC[24], NG_007493.1:g.6299TC[25], NG_007493.1:g.6299TC[26], NG_007493.1:g.6299TC[27], NG_007493.1:g.6299TC[28], NG_007493.1:g.6299TC[29], NG_007493.1:g.6299TC[30], NG_007493.1:g.6299TC[31], NG_007493.1:g.6299TC[32], NG_016849.1:g.4774GA[9], NG_016849.1:g.4774GA[10], NG_016849.1:g.4774GA[11], NG_016849.1:g.4774GA[12], NG_016849.1:g.4774GA[13], NG_016849.1:g.4774GA[15], NG_016849.1:g.4774GA[16], NG_016849.1:g.4774GA[17], NG_016849.1:g.4774GA[18], NG_016849.1:g.4774GA[19], NG_016849.1:g.4774GA[20], NG_016849.1:g.4774GA[21], NG_016849.1:g.4774GA[22], NG_016849.1:g.4774GA[23], NG_016849.1:g.4774GA[24], NG_016849.1:g.4774GA[25], NG_016849.1:g.4774GA[26], NG_016849.1:g.4774GA[27], NG_016849.1:g.4774GA[28], NG_016849.1:g.4774GA[29], NG_016849.1:g.4774GA[30], NG_016849.1:g.4774GA[31], NG_016849.1:g.4774GA[32]
8.
rs1491318442 has merged into rs1300759232 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 1:156821495
(GRCh38)
1:156791287
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156821493:TAT:T,NC_000001.11:156821493:TAT:TATAT
- Gene:
- NTRK1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATAT=0./0
(
ALFA)
-=0.00018/3
(TOMMO)
- HGVS:
9.
rs1491220389 has merged into rs71644586 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 1:156867681
(GRCh38)
1:156837473
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156867671:TTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:156867671:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:156867671:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:156867671:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:156867671:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:156867671:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:156867671:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- NTRK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.0643/322
(1000Genomes)
-=0.1/4
(GENOME_DK)
- HGVS:
NC_000001.11:g.156867681_156867684del, NC_000001.11:g.156867683_156867684del, NC_000001.11:g.156867684del, NC_000001.11:g.156867684dup, NC_000001.11:g.156867683_156867684dup, NC_000001.11:g.156867682_156867684dup, NC_000001.11:g.156867681_156867684dup, NC_000001.10:g.156837473_156837476del, NC_000001.10:g.156837475_156837476del, NC_000001.10:g.156837476del, NC_000001.10:g.156837476dup, NC_000001.10:g.156837475_156837476dup, NC_000001.10:g.156837474_156837476dup, NC_000001.10:g.156837473_156837476dup, NG_007493.1:g.56932_56935del, NG_007493.1:g.56934_56935del, NG_007493.1:g.56935del, NG_007493.1:g.56935dup, NG_007493.1:g.56934_56935dup, NG_007493.1:g.56933_56935dup, NG_007493.1:g.56932_56935dup
10.
rs1491214439 has merged into rs386368405 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:156826305
(GRCh38)
1:156796097
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156826293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NTRK1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.175/7
(GENOME_DK)
-=0.4113/2060
(1000Genomes)
- HGVS:
NC_000001.11:g.156826305_156826316del, NC_000001.11:g.156826306_156826316del, NC_000001.11:g.156826307_156826316del, NC_000001.11:g.156826308_156826316del, NC_000001.11:g.156826309_156826316del, NC_000001.11:g.156826310_156826316del, NC_000001.11:g.156826311_156826316del, NC_000001.11:g.156826312_156826316del, NC_000001.11:g.156826313_156826316del, NC_000001.11:g.156826314_156826316del, NC_000001.11:g.156826315_156826316del, NC_000001.11:g.156826316del, NC_000001.11:g.156826316dup, NC_000001.11:g.156826315_156826316dup, NC_000001.11:g.156826314_156826316dup, NC_000001.11:g.156826313_156826316dup, NC_000001.11:g.156826312_156826316dup, NC_000001.11:g.156826311_156826316dup, NC_000001.11:g.156826310_156826316dup, NC_000001.11:g.156826309_156826316dup, NC_000001.11:g.156826308_156826316dup, NC_000001.11:g.156826307_156826316dup, NC_000001.11:g.156826306_156826316dup, NC_000001.11:g.156826305_156826316dup, NC_000001.10:g.156796097_156796108del, NC_000001.10:g.156796098_156796108del, NC_000001.10:g.156796099_156796108del, NC_000001.10:g.156796100_156796108del, NC_000001.10:g.156796101_156796108del, NC_000001.10:g.156796102_156796108del, NC_000001.10:g.156796103_156796108del, NC_000001.10:g.156796104_156796108del, NC_000001.10:g.156796105_156796108del, NC_000001.10:g.156796106_156796108del, NC_000001.10:g.156796107_156796108del, NC_000001.10:g.156796108del, NC_000001.10:g.156796108dup, NC_000001.10:g.156796107_156796108dup, NC_000001.10:g.156796106_156796108dup, NC_000001.10:g.156796105_156796108dup, NC_000001.10:g.156796104_156796108dup, NC_000001.10:g.156796103_156796108dup, NC_000001.10:g.156796102_156796108dup, NC_000001.10:g.156796101_156796108dup, NC_000001.10:g.156796100_156796108dup, NC_000001.10:g.156796099_156796108dup, NC_000001.10:g.156796098_156796108dup, NC_000001.10:g.156796097_156796108dup, NG_007493.1:g.15556_15567del, NG_007493.1:g.15557_15567del, NG_007493.1:g.15558_15567del, NG_007493.1:g.15559_15567del, NG_007493.1:g.15560_15567del, NG_007493.1:g.15561_15567del, NG_007493.1:g.15562_15567del, NG_007493.1:g.15563_15567del, NG_007493.1:g.15564_15567del, NG_007493.1:g.15565_15567del, NG_007493.1:g.15566_15567del, NG_007493.1:g.15567del, NG_007493.1:g.15567dup, NG_007493.1:g.15566_15567dup, NG_007493.1:g.15565_15567dup, NG_007493.1:g.15564_15567dup, NG_007493.1:g.15563_15567dup, NG_007493.1:g.15562_15567dup, NG_007493.1:g.15561_15567dup, NG_007493.1:g.15560_15567dup, NG_007493.1:g.15559_15567dup, NG_007493.1:g.15558_15567dup, NG_007493.1:g.15557_15567dup, NG_007493.1:g.15556_15567dup
11.
rs1491051983 has merged into rs1384581464 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 1:156857215
(GRCh38)
1:156827007
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156857213:TAT:T,NC_000001.11:156857213:TAT:TATAT
- Gene:
- INSRR (Varview), NTRK1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATAT=0./0
(
ALFA)
TA=0.000004/1
(TOPMED)
-=0.000501/58
(GnomAD)
-=0.000637/11
(TOMMO)
- HGVS:
12.
rs1491012517 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGTG
[Show Flanks]
- Chromosome:
- 1:156821458
(GRCh38)
1:156791251
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156821458:GTG:GTGGGTG
- Gene:
- NTRK1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGGGTG=0./0
(
ALFA)
GTGG=0.00002/2
(GnomAD)
- HGVS:
14.
rs1490895712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:156841845
(GRCh38)
1:156811637
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156841844:A:C
- Gene:
- INSRR (Varview), NTRK1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1490884289 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:156833080
(GRCh38)
1:156802872
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156833079:G:A
- Gene:
- NTRK1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490872506 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:156867083
(GRCh38)
1:156836876
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156867083:GGGGGG:GGGGGGG
- Gene:
- NTRK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490858513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:156833951
(GRCh38)
1:156803743
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156833950:C:T
- Gene:
- NTRK1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490776608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:156852804
(GRCh38)
1:156822596
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156852803:G:T
- Gene:
- INSRR (Varview), NTRK1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
19.
rs1490761948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:156883137
(GRCh38)
1:156852929
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156883136:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
20.
rs1490718919 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:156856109
(GRCh38)
1:156825901
(GRCh37)
- Canonical SPDI:
- NC_000001.11:156856108:A:G
- Gene:
- INSRR (Varview), NTRK1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: