SNP Links for Gene (Select 10614) - SNP

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Select item 14915578661.

rs1491557866 has merged into rs869285785 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:45145434 (GRCh38)
17:43222801 (GRCh37)
Canonical SPDI:: NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:45145421:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TT=0.06276/30 (NorthernSweden)
HGVS:: NC_000017.11:g.45145434_45145443del, NC_000017.11:g.45145435_45145443del, NC_000017.11:g.45145436_45145443del, NC_000017.11:g.45145437_45145443del, NC_000017.11:g.45145438_45145443del, NC_000017.11:g.45145439_45145443del, NC_000017.11:g.45145440_45145443del, NC_000017.11:g.45145441_45145443del, NC_000017.11:g.45145442_45145443del, NC_000017.11:g.45145443del, NC_000017.11:g.45145443dup, NC_000017.11:g.45145442_45145443dup, NC_000017.11:g.45145441_45145443dup, NC_000017.11:g.45145440_45145443dup, NC_000017.11:g.45145439_45145443dup, NC_000017.11:g.45145438_45145443dup, NC_000017.11:g.45145437_45145443dup, NC_000017.10:g.43222801_43222810del, NC_000017.10:g.43222802_43222810del, NC_000017.10:g.43222803_43222810del, NC_000017.10:g.43222804_43222810del, NC_000017.10:g.43222805_43222810del, NC_000017.10:g.43222806_43222810del, NC_000017.10:g.43222807_43222810del, NC_000017.10:g.43222808_43222810del, NC_000017.10:g.43222809_43222810del, NC_000017.10:g.43222810del, NC_000017.10:g.43222810dup, NC_000017.10:g.43222809_43222810dup, NC_000017.10:g.43222808_43222810dup, NC_000017.10:g.43222807_43222810dup, NC_000017.10:g.43222806_43222810dup, NC_000017.10:g.43222805_43222810dup, NC_000017.10:g.43222804_43222810dup

Select item 14915315252.

rs1491531525 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:45149105 (GRCh38)
17:43226472 (GRCh37)
Canonical SPDI:: NC_000017.11:45149103:TCT:T
Gene:: HEXIM1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.45149105_45149106del, NC_000017.10:g.43226472_43226473del, NM_006460.3:c.-86_-85del, NM_006460.2:c.-86_-85del

Select item 14915113973.

rs1491511397 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:45145419 (GRCh38)
17:43222787 (GRCh37)
Canonical SPDI:: NC_000017.11:45145419:T:TT,NC_000017.11:45145419:T:TTT,NC_000017.11:45145419:T:TTTT,NC_000017.11:45145419:T:TTTTT,NC_000017.11:45145419:T:TTTTTT,NC_000017.11:45145419:T:TTTTTTT,NC_000017.11:45145419:T:TTTTTTTT,NC_000017.11:45145419:T:TTTTTTTTT,NC_000017.11:45145419:T:TTTTTTTTTT,NC_000017.11:45145419:T:TTTTTTTTTTT,NC_000017.11:45145419:T:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:45145419:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.00047/8 (TOMMO)
TTTT=0.00524/3 (NorthernSweden)
HGVS:: NC_000017.11:g.45145420dup, NC_000017.11:g.45145420_45145421insTT, NC_000017.11:g.45145420_45145421insTTT, NC_000017.11:g.45145420_45145421insTTTT, NC_000017.11:g.45145420_45145421insTTTTT, NC_000017.11:g.45145420_45145421insTTTTTT, NC_000017.11:g.45145420_45145421insTTTTTTT, NC_000017.11:g.45145420_45145421insTTTTTTTT, NC_000017.11:g.45145420_45145421insTTTTTTTTT, NC_000017.11:g.45145420_45145421insTTTTTTTTTT, NC_000017.11:g.45145420_45145421insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.45145420_45145421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.43222787dup, NC_000017.10:g.43222787_43222788insTT, NC_000017.10:g.43222787_43222788insTTT, NC_000017.10:g.43222787_43222788insTTTT, NC_000017.10:g.43222787_43222788insTTTTT, NC_000017.10:g.43222787_43222788insTTTTTT, NC_000017.10:g.43222787_43222788insTTTTTTT, NC_000017.10:g.43222787_43222788insTTTTTTTT, NC_000017.10:g.43222787_43222788insTTTTTTTTT, NC_000017.10:g.43222787_43222788insTTTTTTTTTT, NC_000017.10:g.43222787_43222788insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.43222787_43222788insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911990494.

rs1491199049 has merged into rs3834588 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG [Show Flanks]
Chromosome:: 17:45146798 (GRCh38)
17:43224165 (GRCh37)
Canonical SPDI:: NC_000017.11:45146791:GGGGGGGG:GGGGGG,NC_000017.11:45146791:GGGGGGGG:GGGGGGG,NC_000017.11:45146791:GGGGGGGG:GGGGGGGGG,NC_000017.11:45146791:GGGGGGGG:GGGGGGGGGG,NC_000017.11:45146791:GGGGGGGG:GGGGGGGGGGG
Gene:: HEXIM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
-=0.0035/4 (1000Genomes)
HGVS:: NC_000017.11:g.45146798_45146799del, NC_000017.11:g.45146799del, NC_000017.11:g.45146799dup, NC_000017.11:g.45146798_45146799dup, NC_000017.11:g.45146797_45146799dup, NC_000017.10:g.43224165_43224166del, NC_000017.10:g.43224166del, NC_000017.10:g.43224166dup, NC_000017.10:g.43224165_43224166dup, NC_000017.10:g.43224164_43224166dup

Select item 14898883885.

rs1489888388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:45149531 (GRCh38)
17:43226898 (GRCh37)
Canonical SPDI:: NC_000017.11:45149530:A:G
Gene:: HEXIM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.45149531A>G, NC_000017.10:g.43226898A>G, NM_006460.3:c.341A>G, NM_006460.2:c.341A>G, NP_006451.1:p.Glu114Gly

Select item 14898667766.

rs1489866776 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:45150654 (GRCh38)
17:43228021 (GRCh37)
Canonical SPDI:: NC_000017.11:45150653:T:C
Gene:: HEXIM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.45150654T>C, NC_000017.10:g.43228021T>C, NM_006460.3:c.*384T>C, NM_006460.2:c.*384T>C

Select item 14895063247.

rs1489506324 [Homo sapiens]

Variant type:: DEL
Alleles:: GTTA>- [Show Flanks]
Chromosome:: 17:45150740 (GRCh38)
17:43228107 (GRCh37)
Canonical SPDI:: NC_000017.11:45150739:GTTA:
Gene:: HEXIM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0./0 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.45150740_45150743del, NC_000017.10:g.43228107_43228110del, NM_006460.3:c.*470_*473del, NM_006460.2:c.*470_*473del

Select item 14891435308.

rs1489143530 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 17:45147897 (GRCh38)
17:43225264 (GRCh37)
Canonical SPDI:: NC_000017.11:45147896:A:
Gene:: HEXIM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.45147897del, NC_000017.10:g.43225264del, NM_006460.2:c.-1294del

Select item 14890277089.

rs1489027708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:45152166 (GRCh38)
17:43229533 (GRCh37)
Canonical SPDI:: NC_000017.11:45152165:G:A,NC_000017.11:45152165:G:T
Gene:: HEXIM1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.45152166G>A, NC_000017.11:g.45152166G>T, NC_000017.10:g.43229533G>A, NC_000017.10:g.43229533G>T

Select item 148820148310.

rs1488201483 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:45148674 (GRCh38)
17:43226041 (GRCh37)
Canonical SPDI:: NC_000017.11:45148673:A:G
Gene:: HEXIM1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.45148674A>G, NC_000017.10:g.43226041A>G, NM_006460.3:c.-517A>G, NM_006460.2:c.-517A>G

Select item 148813480611.

rs1488134806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:45148439 (GRCh38)
17:43225806 (GRCh37)
Canonical SPDI:: NC_000017.11:45148438:G:A
Gene:: HEXIM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,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:: NC_000017.11:g.45148439G>A, NC_000017.10:g.43225806G>A, NM_006460.2:c.-752G>A

Select item 148784124512.

rs1487841245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:45149174 (GRCh38)
17:43226541 (GRCh37)
Canonical SPDI:: NC_000017.11:45149173:C:G
Gene:: HEXIM1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.45149174C>G, NC_000017.10:g.43226541C>G, NM_006460.3:c.-17C>G, NM_006460.2:c.-17C>G

Select item 148691071513.

rs1486910715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45145721 (GRCh38)
17:43223088 (GRCh37)
Canonical SPDI:: NC_000017.11:45145720:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000071/10 (GnomAD)
T=0.000072/19 (TOPMED)
HGVS:: NC_000017.11:g.45145721C>T, NC_000017.10:g.43223088C>T

Select item 148681378714.

rs1486813787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45148477 (GRCh38)
17:43225844 (GRCh37)
Canonical SPDI:: NC_000017.11:45148476:C:T
Gene:: HEXIM1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000123/17 (GnomAD)
HGVS:: NC_000017.11:g.45148477C>T, NC_000017.10:g.43225844C>T, NM_006460.3:c.-714C>T, NM_006460.2:c.-714C>T

Select item 148595277215.

rs1485952772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:45152538 (GRCh38)
17:43229905 (GRCh37)
Canonical SPDI:: NC_000017.11:45152537:G:T
Gene:: HEXIM1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.45152538G>T, NC_000017.10:g.43229905G>T

Select item 148588194716.

rs1485881947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45147545 (GRCh38)
17:43224912 (GRCh37)
Canonical SPDI:: NC_000017.11:45147544:C:T
Gene:: HEXIM1 (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.45147545C>T, NC_000017.10:g.43224912C>T, NM_006460.2:c.-1646C>T

Select item 148586725717.

rs1485867257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:45147142 (GRCh38)
17:43224509 (GRCh37)
Canonical SPDI:: NC_000017.11:45147141:G:A
Gene:: HEXIM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.45147142G>A, NC_000017.10:g.43224509G>A

Select item 148560832818.

rs1485608328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45147556 (GRCh38)
17:43224923 (GRCh37)
Canonical SPDI:: NC_000017.11:45147555:C:T
Gene:: HEXIM1 (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.45147556C>T, NC_000017.10:g.43224923C>T, NM_006460.2:c.-1635C>T

Select item 148495548619.

rs1484955486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:45146682 (GRCh38)
17:43224049 (GRCh37)
Canonical SPDI:: NC_000017.11:45146681:G:A
Gene:: HEXIM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.45146682G>A, NC_000017.10:g.43224049G>A

Select item 148486748420.

rs1484867484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:45147833 (GRCh38)
17:43225200 (GRCh37)
Canonical SPDI:: NC_000017.11:45147832:C:A
Gene:: HEXIM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.45147833C>A, NC_000017.10:g.43225200C>A, NM_006460.2:c.-1358C>A

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