SNP Links for Gene (Select 3645) - SNP

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Select item 14910519831.

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:: NC_000001.11:g.156857215_156857216del, NC_000001.11:g.156857215_156857216dup, NC_000001.10:g.156827007_156827008del, NC_000001.10:g.156827007_156827008dup, NG_007493.1:g.46466_46467del, NG_007493.1:g.46466_46467dup

Select item 14908957122.

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:: NC_000001.11:g.156841845A>C, NC_000001.10:g.156811637A>C, NG_007493.1:g.31096A>C

Select item 14907766083.

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:: NC_000001.11:g.156852804G>T, NC_000001.10:g.156822596G>T, NG_007493.1:g.42055G>T

Select item 14907189194.

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:: NC_000001.11:g.156856109A>G, NC_000001.10:g.156825901A>G, NG_007493.1:g.45360A>G

Select item 14906876575.

rs1490687657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156857161 (GRCh38)
1:156826953 (GRCh37)
Canonical SPDI:: NC_000001.11:156857160:G:A
Gene:: INSRR (Varview), NTRK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000028/3 (GnomAD)
HGVS:: NC_000001.11:g.156857161G>A, NC_000001.10:g.156826953G>A, NG_007493.1:g.46412G>A

Select item 14905559716.

rs1490555971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156856687 (GRCh38)
1:156826479 (GRCh37)
Canonical SPDI:: NC_000001.11:156856686:G:A
Gene:: INSRR (Varview), NTRK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.156856687G>A, NC_000001.10:g.156826479G>A, NG_007493.1:g.45938G>A

Select item 14905253647.

rs1490525364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156857433 (GRCh38)
1:156827225 (GRCh37)
Canonical SPDI:: NC_000001.11:156857432:C:T
Gene:: INSRR (Varview), NTRK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.156857433C>T, NC_000001.10:g.156827225C>T, NG_007493.1:g.46684C>T

Select item 14904747218.

rs1490474721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156854170 (GRCh38)
1:156823962 (GRCh37)
Canonical SPDI:: NC_000001.11:156854169:G:A
Gene:: INSRR (Varview), NTRK1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.156854170G>A, NC_000001.10:g.156823962G>A, NG_007493.1:g.43421G>A, NM_014215.3:c.219C>T, NM_014215.2:c.219C>T

Select item 14896917849.

rs1489691784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156843112 (GRCh38)
1:156812904 (GRCh37)
Canonical SPDI:: NC_000001.11:156843111:C:T
Gene:: INSRR (Varview), NTRK1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156843112C>T, NC_000001.10:g.156812904C>T, NG_007493.1:g.32363C>T, NM_014215.3:c.3018G>A, NM_014215.2:c.3018G>A

Select item 148963091410.

rs1489630914 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156858535 (GRCh38)
1:156828327 (GRCh37)
Canonical SPDI:: NC_000001.11:156858534:A:G
Gene:: INSRR (Varview), NTRK1 (Varview)
Functional Consequence:: intron_variant,splice_donor_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156858535A>G, NC_000001.10:g.156828327A>G, NG_007493.1:g.47786A>G

Select item 148962440111.

rs1489624401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:156845884 (GRCh38)
1:156815676 (GRCh37)
Canonical SPDI:: NC_000001.11:156845883: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./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156845884G>T, NC_000001.10:g.156815676G>T, NG_007493.1:g.35135G>T

Select item 148956297912.

rs1489562979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156849491 (GRCh38)
1:156819283 (GRCh37)
Canonical SPDI:: NC_000001.11:156849490:G:A
Gene:: INSRR (Varview), NTRK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.156849491G>A, NC_000001.10:g.156819283G>A, NG_007493.1:g.38742G>A

Select item 148944798313.

rs1489447983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156855290 (GRCh38)
1:156825082 (GRCh37)
Canonical SPDI:: NC_000001.11:156855289: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)
G=0.001667/1 (NorthernSweden)
HGVS:: NC_000001.11:g.156855290A>G, NC_000001.10:g.156825082A>G, NG_007493.1:g.44541A>G

Select item 148943125814.

rs1489431258 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 1:156857332 (GRCh38)
1:156827125 (GRCh37)
Canonical SPDI:: NC_000001.11:156857332:GCGC:GCGCGC
Gene:: INSRR (Varview), NTRK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GCGCGC=0./0 (ALFA)
GC=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156857333GC[3], NC_000001.10:g.156827125GC[3], NG_007493.1:g.46584GC[3]

Select item 148936068215.

rs1489360682 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAGCTGTGACACAGCGCC [Show Flanks]
Chromosome:: 1:156851996 (GRCh38)
1:156821789 (GRCh37)
Canonical SPDI:: NC_000001.11:156851996:CAGCTGTGACACAGCGCC:CAGCTGTGACACAGCGCCCAGCTGTGACACAGCGCC
Gene:: INSRR (Varview), NTRK1 (Varview)
Functional Consequence:: intron_variant,inframe_insertion,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAGCTGTGACACAGCGCCCAGCTGTGACACAGCGCC=0./0 (ALFA)
CAGCTGTGACACAGCGCC=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.156851997_156852014dup, NC_000001.10:g.156821789_156821806dup, NG_007493.1:g.41248_41265dup, NM_014215.3:c.815_832dup, NM_014215.2:c.815_832dup, NP_055030.1:p.Glu278_Arg279insGlyArgCysValThrAla

Select item 148935941616.

rs1489359416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:156857417 (GRCh38)
1:156827209 (GRCh37)
Canonical SPDI:: NC_000001.11:156857416:T:G
Gene:: INSRR (Varview), NTRK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156857417T>G, NC_000001.10:g.156827209T>G, NG_007493.1:g.46668T>G

Select item 148924731817.

rs1489247318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156850509 (GRCh38)
1:156820301 (GRCh37)
Canonical SPDI:: NC_000001.11:156850508:G:A
Gene:: INSRR (Varview), NTRK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.00003/4 (GnomAD)
A=0.000106/3 (TOMMO)
HGVS:: NC_000001.11:g.156850509G>A, NC_000001.10:g.156820301G>A, NG_007493.1:g.39760G>A

Select item 148839156818.

rs1488391568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156849370 (GRCh38)
1:156819162 (GRCh37)
Canonical SPDI:: NC_000001.11:156849369:G:A
Gene:: INSRR (Varview), NTRK1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156849370G>A, NC_000001.10:g.156819162G>A, NG_007493.1:g.38621G>A, NM_014215.3:c.1320C>T, NM_014215.2:c.1320C>T

Select item 148834168119.

rs1488341681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:156851683 (GRCh38)
1:156821475 (GRCh37)
Canonical SPDI:: NC_000001.11:156851682:A:G,NC_000001.11:156851682:A:T
Gene:: INSRR (Varview), NTRK1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156851683A>G, NC_000001.11:g.156851683A>T, NC_000001.10:g.156821475A>G, NC_000001.10:g.156821475A>T, NG_007493.1:g.40934A>G, NG_007493.1:g.40934A>T, NM_014215.3:c.1047T>C, NM_014215.3:c.1047T>A, NM_014215.2:c.1047T>C, NM_014215.2:c.1047T>A, NP_055030.1:p.His349Gln

Select item 148826928020.

rs1488269280 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:156850093 (GRCh38)
1:156819885 (GRCh37)
Canonical SPDI:: NC_000001.11:156850090:AGAG:AG
Gene:: INSRR (Varview), NTRK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000142/2 (TOMMO)
HGVS:: NC_000001.11:g.156850091AG[1], NC_000001.10:g.156819883AG[1], NG_007493.1:g.39342AG[1]

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