SNP Links for Gene (Select 94151) - SNP

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Select item 14912649171.

rs1491264917 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:15108158 (GRCh38)
17:15011475 (GRCh37)
Canonical SPDI:: NC_000017.11:15108157:GT:
Gene:: CDRT8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.373084/1655 (ALFA)
-=0.12965/237 (Korea1K)
-=0.156982/2605 (TOMMO)
-=0.3/12 (GENOME_DK)
-=0.315272/2019 (1000Genomes)
-=0.336149/199 (NorthernSweden)
-=0.372243/51208 (GnomAD)
HGVS:: NC_000017.11:g.15108158_15108159del, NC_000017.10:g.15011475_15011476del

Select item 14888631172.

rs1488863117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:15107227 (GRCh38)
17:15010544 (GRCh37)
Canonical SPDI:: NC_000017.11:15107226:A:T
Gene:: CDRT8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.15107227A>T, NC_000017.10:g.15010544A>T

Select item 14888314333.

rs1488831433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:15108088 (GRCh38)
17:15011405 (GRCh37)
Canonical SPDI:: NC_000017.11:15108087:A:G
Gene:: CDRT8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.15108088A>G, NC_000017.10:g.15011405A>G

Select item 14886534594.

rs1488653459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:15104562 (GRCh38)
17:15007879 (GRCh37)
Canonical SPDI:: NC_000017.11:15104561:C:A
Gene:: CDRT8 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.15104562C>A, NC_000017.10:g.15007879C>A

Select item 14866898615.

rs1486689861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:15105492 (GRCh38)
17:15008809 (GRCh37)
Canonical SPDI:: NC_000017.11:15105491:A:G
Gene:: CDRT8 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.15105492A>G, NC_000017.10:g.15008809A>G, NR_103559.1:n.212T>C

Select item 14847184316.

rs1484718431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:15106356 (GRCh38)
17:15009673 (GRCh37)
Canonical SPDI:: NC_000017.11:15106355:C:T
Gene:: CDRT8 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000017.11:g.15106356C>T, NC_000017.10:g.15009673C>T

Select item 14823760667.

rs1482376066 has merged into rs58057149 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 17:15107969 (GRCh38)
17:15011286 (GRCh37)
Canonical SPDI:: NC_000017.11:15107959:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:15107959:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:15107959:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:15107959:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:15107959:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:15107959:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:15107959:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:15107959:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:15107959:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:15107959:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: CDRT8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.0984/493 (1000Genomes)
HGVS:: NC_000017.11:g.15107969_15107975del, NC_000017.11:g.15107971_15107975del, NC_000017.11:g.15107972_15107975del, NC_000017.11:g.15107973_15107975del, NC_000017.11:g.15107974_15107975del, NC_000017.11:g.15107975del, NC_000017.11:g.15107975dup, NC_000017.11:g.15107974_15107975dup, NC_000017.11:g.15107973_15107975dup, NC_000017.11:g.15107972_15107975dup, NC_000017.10:g.15011286_15011292del, NC_000017.10:g.15011288_15011292del, NC_000017.10:g.15011289_15011292del, NC_000017.10:g.15011290_15011292del, NC_000017.10:g.15011291_15011292del, NC_000017.10:g.15011292del, NC_000017.10:g.15011292dup, NC_000017.10:g.15011291_15011292dup, NC_000017.10:g.15011290_15011292dup, NC_000017.10:g.15011289_15011292dup

Select item 14823365238.

rs1482336523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:15105382 (GRCh38)
17:15008699 (GRCh37)
Canonical SPDI:: NC_000017.11:15105381:G:T
Gene:: CDRT8 (Varview)
Functional Consequence:: non_coding_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_000017.11:g.15105382G>T, NC_000017.10:g.15008699G>T, NR_103559.1:n.322C>A

Select item 14821948159.

rs1482194815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:15108006 (GRCh38)
17:15011323 (GRCh37)
Canonical SPDI:: NC_000017.11:15108005:T:C
Gene:: CDRT8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000022/3 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.15108006T>C, NC_000017.10:g.15011323T>C

Select item 148212922710.

rs1482129227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:15108158 (GRCh38)
17:15011475 (GRCh37)
Canonical SPDI:: NC_000017.11:15108157:G:T
Gene:: CDRT8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
T=0.00014/8 (GnomAD)
HGVS:: NC_000017.11:g.15108158G>T, NC_000017.10:g.15011475G>T

Select item 148205205411.

rs1482052054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:15106185 (GRCh38)
17:15009502 (GRCh37)
Canonical SPDI:: NC_000017.11:15106184:G:A,NC_000017.11:15106184:G:C
Gene:: CDRT8 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.15106185G>A, NC_000017.11:g.15106185G>C, NC_000017.10:g.15009502G>A, NC_000017.10:g.15009502G>C, NR_103559.1:n.3C>T, NR_103559.1:n.3C>G

Select item 148036748012.

rs1480367480 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:15106284 (GRCh38)
17:15009601 (GRCh37)
Canonical SPDI:: NC_000017.11:15106283:T:C
Gene:: CDRT8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.15106284T>C, NC_000017.10:g.15009601T>C

Select item 148033709513.

rs1480337095 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:15107349 (GRCh38)
17:15010666 (GRCh37)
Canonical SPDI:: NC_000017.11:15107346:TGTG:TG
Gene:: CDRT8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.15107347TG[1], NC_000017.10:g.15010664TG[1]

Select item 147841822814.

rs1478418228 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:15106263 (GRCh38)
17:15009580 (GRCh37)
Canonical SPDI:: NC_000017.11:15106262:TT:T
Gene:: CDRT8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000067/9 (GnomAD)
-=0.000068/18 (TOPMED)
HGVS:: NC_000017.11:g.15106264del, NC_000017.10:g.15009581del

Select item 147821736515.

rs1478217365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:15104636 (GRCh38)
17:15007953 (GRCh37)
Canonical SPDI:: NC_000017.11:15104635:T:C
Gene:: CDRT8 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.15104636T>C, NC_000017.10:g.15007953T>C

Select item 147723395516.

rs1477233955 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:15105163 (GRCh38)
17:15008480 (GRCh37)
Canonical SPDI:: NC_000017.11:15105162:T:
Gene:: CDRT8 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.15105163del, NC_000017.10:g.15008480del, NR_103559.1:n.541del

Select item 147624905917.

rs1476249059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:15105584 (GRCh38)
17:15008901 (GRCh37)
Canonical SPDI:: NC_000017.11:15105583:G:A
Gene:: CDRT8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.15105584G>A, NC_000017.10:g.15008901G>A

Select item 147571596618.

rs1475715966 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:15107665 (GRCh38)
17:15010982 (GRCh37)
Canonical SPDI:: NC_000017.11:15107664:A:C,NC_000017.11:15107664:A:T
Gene:: CDRT8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.15107665A>C, NC_000017.11:g.15107665A>T, NC_000017.10:g.15010982A>C, NC_000017.10:g.15010982A>T

Select item 147524273219.

rs1475242732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:15107055 (GRCh38)
17:15010372 (GRCh37)
Canonical SPDI:: NC_000017.11:15107054:C:T
Gene:: CDRT8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.15107055C>T, NC_000017.10:g.15010372C>T

Select item 147517975120.

rs1475179751 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:15105409 (GRCh38)
17:15008726 (GRCh37)
Canonical SPDI:: NC_000017.11:15105408:T:A
Gene:: CDRT8 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000017.11:g.15105409T>A, NC_000017.10:g.15008726T>A, NR_103559.1:n.295A>T

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