SNP Links for Gene (Select 114043) - SNP

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Select item 14915828921.

rs1491582892 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 21:44519058 (GRCh38)
21:45938941 (GRCh37)
Canonical SPDI:: NC_000021.9:44519055:TCTC:TC
Gene:: TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTC=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000021.9:g.44519056TC[1], NW_004775435.1:g.22379TC[1], NG_033806.2:g.197513GA[1], NG_033806.1:g.197520GA[1], NC_000021.8:g.45938939TC[1]

Select item 14914126102.

rs1491412610 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTC>-,ACTCACTC [Show Flanks]
Chromosome:: 21:44519060 (GRCh38)
21:45938943 (GRCh37)
Canonical SPDI:: NC_000021.9:44519056:CTCACTC:CTC,NC_000021.9:44519056:CTCACTC:CTCACTCACTC
Gene:: TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCACTCACTC=0./0 (ALFA)
CTCA=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.44519060_44519063del, NC_000021.9:g.44519060_44519063dup, NW_004775435.1:g.22383_22386del, NW_004775435.1:g.22383_22386dup, NG_033806.2:g.197512_197515del, NG_033806.2:g.197512_197515dup, NG_033806.1:g.197519_197522del, NG_033806.1:g.197519_197522dup, NC_000021.8:g.45938943_45938946del, NC_000021.8:g.45938943_45938946dup

Select item 14902777343.

rs1490277734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44516537 (GRCh38)
21:45936420 (GRCh37)
Canonical SPDI:: NC_000021.9:44516536:C:T
Gene:: TSPEAR-AS1 (Varview), TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000021.9:g.44516537C>T, NW_004775435.1:g.19860C>T, NG_033806.2:g.200035G>A, NG_033806.1:g.200042G>A, NC_000021.8:g.45936420C>T, NR_103707.1:n.2515C>T

Select item 14891524134.

rs1489152413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44516264 (GRCh38)
21:45936147 (GRCh37)
Canonical SPDI:: NC_000021.9:44516263:C:T
Gene:: TSPEAR-AS1 (Varview), TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44516264C>T, NW_004775435.1:g.19587C>T, NG_033806.2:g.200308G>A, NG_033806.1:g.200315G>A, NC_000021.8:g.45936147C>T, NR_103707.1:n.2242C>T

Select item 14888843295.

rs1488884329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:44516796 (GRCh38)
21:45936679 (GRCh37)
Canonical SPDI:: NC_000021.9:44516795:T:G
Gene:: TSPEAR-AS1 (Varview), TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000045/12 (TOPMED)
G=0.000057/8 (GnomAD)
HGVS:: NC_000021.9:g.44516796T>G, NW_004775435.1:g.20119T>G, NG_033806.2:g.199776A>C, NG_033806.1:g.199783A>C, NC_000021.8:g.45936679T>G

Select item 14888133196.

rs1488813319 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 21:44517381 (GRCh38)
21:45937264 (GRCh37)
Canonical SPDI:: NC_000021.9:44517380:A:C,NC_000021.9:44517380:A:G
Gene:: TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.44517381A>C, NC_000021.9:g.44517381A>G, NW_004775435.1:g.20704A>C, NW_004775435.1:g.20704A>G, NG_033806.2:g.199191T>G, NG_033806.2:g.199191T>C, NG_033806.1:g.199198T>G, NG_033806.1:g.199198T>C, NC_000021.8:g.45937264A>C, NC_000021.8:g.45937264A>G, NR_026547.1:n.167A>C, NR_026547.1:n.167A>G, NR_026548.1:n.167A>C, NR_026548.1:n.167A>G, NM_153204.1:c.-413A>C, NM_153204.1:c.-413A>G

Select item 14879574407.

rs1487957440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44519153 (GRCh38)
21:45939036 (GRCh37)
Canonical SPDI:: NC_000021.9:44519152:C:T
Gene:: TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44519153C>T, NW_004775435.1:g.22476C>T, NG_033806.2:g.197419G>A, NG_033806.1:g.197426G>A, NC_000021.8:g.45939036C>T

Select item 14877081748.

rs1487708174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:44517541 (GRCh38)
21:45937424 (GRCh37)
Canonical SPDI:: NC_000021.9:44517540:T:G
Gene:: TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000021.9:g.44517541T>G, NW_004775435.1:g.20864T>G, NG_033806.2:g.199031A>C, NG_033806.1:g.199038A>C, NC_000021.8:g.45937424T>G, NR_026547.1:n.327T>G, NR_026548.1:n.327T>G, NM_153204.1:c.-253T>G

Select item 14874134639.

rs1487413463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:44517264 (GRCh38)
21:45937147 (GRCh37)
Canonical SPDI:: NC_000021.9:44517263:A:T
Gene:: TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000038/10 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000021.9:g.44517264A>T, NW_004775435.1:g.20587A>T, NG_033806.2:g.199308T>A, NG_033806.1:g.199315T>A, NC_000021.8:g.45937147A>T, NR_026547.1:n.50A>T, NR_026548.1:n.50A>T, NM_153204.1:c.-530A>T

Select item 148738474910.

rs1487384749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44517814 (GRCh38)
21:45937697 (GRCh37)
Canonical SPDI:: NC_000021.9:44517813:G:A
Gene:: TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.00004/6 (GnomAD_exomes)
A=0.00005/7 (GnomAD)
A=0.000053/14 (TOPMED)
HGVS:: NC_000021.9:g.44517814G>A, NW_004775435.1:g.21137G>A, NG_033806.2:g.198758C>T, NG_033806.1:g.198765C>T, NC_000021.8:g.45937697G>A, NR_026547.1:n.600G>A, NR_026548.1:n.600G>A, NM_153204.1:c.21G>A

Select item 148692276311.

rs1486922763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44517321 (GRCh38)
21:45937204 (GRCh37)
Canonical SPDI:: NC_000021.9:44517320:C:T
Gene:: TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000021.9:g.44517321C>T, NW_004775435.1:g.20644C>T, NG_033806.2:g.199251G>A, NG_033806.1:g.199258G>A, NC_000021.8:g.45937204C>T, NR_026547.1:n.107C>T, NR_026548.1:n.107C>T, NM_153204.1:c.-473C>T

Select item 148684980812.

rs1486849808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44517874 (GRCh38)
21:45937757 (GRCh37)
Canonical SPDI:: NC_000021.9:44517873:C:T
Gene:: TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44517874C>T, NW_004775435.1:g.21197C>T, NG_033806.2:g.198698G>A, NG_033806.1:g.198705G>A, NC_000021.8:g.45937757C>T

Select item 148680005613.

rs1486800056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:44515631 (GRCh38)
21:45935514 (GRCh37)
Canonical SPDI:: NC_000021.9:44515630:G:A,NC_000021.9:44515630:G:C
Gene:: TSPEAR-AS1 (Varview), TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44515631G>A, NC_000021.9:g.44515631G>C, NW_004775435.1:g.18954G>A, NW_004775435.1:g.18954G>C, NG_033806.2:g.200941C>T, NG_033806.2:g.200941C>G, NG_033806.1:g.200948C>T, NG_033806.1:g.200948C>G, NC_000021.8:g.45935514G>A, NC_000021.8:g.45935514G>C, NR_103707.1:n.1609G>A, NR_103707.1:n.1609G>C

Select item 148484494214.

rs1484844942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:44516177 (GRCh38)
21:45936060 (GRCh37)
Canonical SPDI:: NC_000021.9:44516176:A:C
Gene:: TSPEAR-AS1 (Varview), TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44516177A>C, NW_004775435.1:g.19500A>C, NG_033806.2:g.200395T>G, NG_033806.1:g.200402T>G, NC_000021.8:g.45936060A>C, NR_103707.1:n.2155A>C

Select item 148477365215.

rs1484773652 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 21:44516718 (GRCh38)
21:45936602 (GRCh37)
Canonical SPDI:: NC_000021.9:44516718:T:TT
Gene:: TSPEAR-AS1 (Varview), TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000021.9:g.44516719dup, NW_004775435.1:g.20042dup, NG_033806.2:g.199853dup, NG_033806.1:g.199860dup, NC_000021.8:g.45936602dup

Select item 148399577016.

rs1483995770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:44519219 (GRCh38)
21:45939102 (GRCh37)
Canonical SPDI:: NC_000021.9:44519218:G:C
Gene:: TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44519219G>C, NW_004775435.1:g.22542G>C, NG_033806.2:g.197353C>G, NG_033806.1:g.197360C>G, NC_000021.8:g.45939102G>C

Select item 148377157217.

rs1483771572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:44518681 (GRCh38)
21:45938564 (GRCh37)
Canonical SPDI:: NC_000021.9:44518680:C:G,NC_000021.9:44518680:C:T
Gene:: TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.44518681C>G, NC_000021.9:g.44518681C>T, NW_004775435.1:g.22004C>G, NW_004775435.1:g.22004C>T, NG_033806.2:g.197891G>C, NG_033806.2:g.197891G>A, NG_033806.1:g.197898G>C, NG_033806.1:g.197898G>A, NC_000021.8:g.45938564C>G, NC_000021.8:g.45938564C>T, NR_026547.1:n.749C>G, NR_026547.1:n.749C>T, NR_026548.1:n.675C>G, NR_026548.1:n.675C>T, NM_153204.1:c.170C>G, NM_153204.1:c.170C>T

Select item 148374028518.

rs1483740285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44519258 (GRCh38)
21:45939141 (GRCh37)
Canonical SPDI:: NC_000021.9:44519257:C:T
Gene:: TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_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_000021.9:g.44519258C>T, NW_004775435.1:g.22581C>T, NG_033806.2:g.197314G>A, NG_033806.1:g.197321G>A, NC_000021.8:g.45939141C>T

Select item 148228624319.

rs1482286243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:44515440 (GRCh38)
21:45935323 (GRCh37)
Canonical SPDI:: NC_000021.9:44515439:C:G,NC_000021.9:44515439:C:T
Gene:: TSPEAR-AS1 (Varview), TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.44515440C>G, NC_000021.9:g.44515440C>T, NW_004775435.1:g.18763C>G, NW_004775435.1:g.18763C>T, NG_033806.2:g.201132G>C, NG_033806.2:g.201132G>A, NG_033806.1:g.201139G>C, NG_033806.1:g.201139G>A, NC_000021.8:g.45935323C>G, NC_000021.8:g.45935323C>T

Select item 148181512120.

rs1481815121 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGT>- [Show Flanks]
Chromosome:: 21:44519203 (GRCh38)
21:45939086 (GRCh37)
Canonical SPDI:: NC_000021.9:44519201:TTTGT:T
Gene:: TSPEAR (Varview), TSPEAR-AS2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000337/4 (ALFA)
-=0.000093/13 (GnomAD)
HGVS:: NC_000021.9:g.44519203_44519206del, NW_004775435.1:g.22526_22529del, NG_033806.2:g.197367_197370del, NG_033806.1:g.197374_197377del, NC_000021.8:g.45939086_45939089del

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