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Select item 14914144451.

rs1491414445 has merged into rs35347666 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:177499498 (GRCh38)
5:176926499 (GRCh37)
Canonical SPDI:: NC_000005.10:177499487:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:177499487:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:177499487:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:177499487:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:177499487:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:177499487:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:177499487:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:177499487:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:177499487:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:177499487:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:177499487:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177499487:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: PDLIM7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
AA=0.4996/2502 (1000Genomes)
HGVS:: NC_000005.10:g.177499498_177499506del, NC_000005.10:g.177499499_177499506del, NC_000005.10:g.177499500_177499506del, NC_000005.10:g.177499501_177499506del, NC_000005.10:g.177499502_177499506del, NC_000005.10:g.177499503_177499506del, NC_000005.10:g.177499504_177499506del, NC_000005.10:g.177499505_177499506del, NC_000005.10:g.177499506del, NC_000005.10:g.177499506dup, NC_000005.10:g.177499505_177499506dup, NC_000005.10:g.177499504_177499506dup, NC_000005.9:g.176926499_176926507del, NC_000005.9:g.176926500_176926507del, NC_000005.9:g.176926501_176926507del, NC_000005.9:g.176926502_176926507del, NC_000005.9:g.176926503_176926507del, NC_000005.9:g.176926504_176926507del, NC_000005.9:g.176926505_176926507del, NC_000005.9:g.176926506_176926507del, NC_000005.9:g.176926507del, NC_000005.9:g.176926507dup, NC_000005.9:g.176926506_176926507dup, NC_000005.9:g.176926505_176926507dup

Select item 14911588832.

rs1491158883 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGG [Show Flanks]
Chromosome:: 5:177490759 (GRCh38)
5:176917761 (GRCh37)
Canonical SPDI:: NC_000005.10:177490759:AGG:AGGGAGG
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGGGAGG=0./0 (ALFA)
HGVS:: NC_000005.10:g.177490762_177490763insGAGG, NC_000005.9:g.176917763_176917764insGAGG

Select item 14911360903.

rs1491136090 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:177499487 (GRCh38)
5:176926488 (GRCh37)
Canonical SPDI:: NC_000005.10:177499486:CA:
Gene:: PDLIM7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.177499487_177499488del, NC_000005.9:g.176926488_176926489del

Select item 14907992394.

rs1490799239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:177495652 (GRCh38)
5:176922653 (GRCh37)
Canonical SPDI:: NC_000005.10:177495651:G:C
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_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_000005.10:g.177495652G>C, NC_000005.9:g.176922653G>C

Select item 14907647815.

rs1490764781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:177491511 (GRCh38)
5:176918512 (GRCh37)
Canonical SPDI:: NC_000005.10:177491510:G:A,NC_000005.10:177491510:G:C
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.177491511G>A, NC_000005.10:g.177491511G>C, NC_000005.9:g.176918512G>A, NC_000005.9:g.176918512G>C, NG_074198.1:g.104G>A, NG_074198.1:g.104G>C

Select item 14906358186.

rs1490635818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:177496157 (GRCh38)
5:176923158 (GRCh37)
Canonical SPDI:: NC_000005.10:177496156:C:G
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.177496157C>G, NC_000005.9:g.176923158C>G

Select item 14902536857.

rs1490253685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:177494563 (GRCh38)
5:176921564 (GRCh37)
Canonical SPDI:: NC_000005.10:177494562:G:A,NC_000005.10:177494562:G:C
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.177494563G>A, NC_000005.10:g.177494563G>C, NC_000005.9:g.176921564G>A, NC_000005.9:g.176921564G>C

Select item 14898681148.

rs1489868114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:177486968 (GRCh38)
5:176913969 (GRCh37)
Canonical SPDI:: NC_000005.10:177486967:G:T
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00416/67 (ALFA)
T=0.00014/2 (TOMMO)
T=0.00109/7 (1000Genomes)
T=0.00637/11 (Korea1K)
T=0.01786/52 (KOREAN)
HGVS:: NC_000005.10:g.177486968G>T, NC_000005.9:g.176913969G>T

Select item 14895560049.

rs1489556004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:177488162 (GRCh38)
5:176915163 (GRCh37)
Canonical SPDI:: NC_000005.10:177488161:C:G
Gene:: PDLIM7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.177488162C>G, NC_000005.9:g.176915163C>G, NM_005451.5:c.956G>C, NM_005451.4:c.956G>C, NM_203352.3:c.854G>C, NM_203352.2:c.854G>C, NR_103804.2:n.1243G>C, NR_103804.1:n.1244G>C, NM_203353.1:c.*511G>C, NP_005442.2:p.Gly319Ala, NP_976227.1:p.Gly285Ala

Select item 148949665110.

rs1489496651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177496945 (GRCh38)
5:176923946 (GRCh37)
Canonical SPDI:: NC_000005.10:177496944:G:A
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.177496945G>A, NC_000005.9:g.176923946G>A

Select item 148939978011.

rs1489399780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177497328 (GRCh38)
5:176924329 (GRCh37)
Canonical SPDI:: NC_000005.10:177497327:C:T
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.177497328C>T, NC_000005.9:g.176924329C>T

Select item 148937892612.

rs1489378926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:177485301 (GRCh38)
5:176912302 (GRCh37)
Canonical SPDI:: NC_000005.10:177485300:A:C
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.177485301A>C, NC_000005.9:g.176912302A>C

Select item 148914280513.

rs1489142805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177493951 (GRCh38)
5:176920952 (GRCh37)
Canonical SPDI:: NC_000005.10:177493950:G:A
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.177493951G>A, NC_000005.9:g.176920952G>A

Select item 148900019414.

rs1489000194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:177493512 (GRCh38)
5:176920513 (GRCh37)
Canonical SPDI:: NC_000005.10:177493511:T:A
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00011/2 (TOMMO)
A=0.00068/2 (KOREAN)
A=0.00164/3 (Korea1K)
HGVS:: NC_000005.10:g.177493512T>A, NC_000005.9:g.176920513T>A

Select item 148896320615.

rs1488963206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177491063 (GRCh38)
5:176918064 (GRCh37)
Canonical SPDI:: NC_000005.10:177491062:G:A
Gene:: PDLIM7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.177491063G>A, NC_000005.9:g.176918064G>A, NM_005451.5:c.482C>T, NM_005451.4:c.482C>T, NM_203352.3:c.380C>T, NM_203352.2:c.380C>T, NM_213636.3:c.482C>T, NM_213636.2:c.482C>T, NR_103804.2:n.570C>T, NR_103804.1:n.571C>T, NM_203353.1:c.*37C>T, NP_005442.2:p.Thr161Ile, NP_976227.1:p.Thr127Ile, NP_998801.1:p.Thr161Ile

Select item 148878064816.

rs1488780648 has merged into rs56297561 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 5:177488902 (GRCh38)
5:176915903 (GRCh37)
Canonical SPDI:: NC_000005.10:177488889:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:177488889:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:177488889:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:177488889:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:177488889:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:177488889:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: PDLIM7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.01757/88 (1000Genomes)
HGVS:: NC_000005.10:g.177488902_177488905del, NC_000005.10:g.177488903_177488905del, NC_000005.10:g.177488904_177488905del, NC_000005.10:g.177488905del, NC_000005.10:g.177488905dup, NC_000005.10:g.177488904_177488905dup, NC_000005.9:g.176915903_176915906del, NC_000005.9:g.176915904_176915906del, NC_000005.9:g.176915905_176915906del, NC_000005.9:g.176915906del, NC_000005.9:g.176915906dup, NC_000005.9:g.176915905_176915906dup

Select item 148828435017.

rs1488284350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:177491672 (GRCh38)
5:176918673 (GRCh37)
Canonical SPDI:: NC_000005.10:177491671:C:A,NC_000005.10:177491671:C:G
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.177491672C>A, NC_000005.10:g.177491672C>G, NC_000005.9:g.176918673C>A, NC_000005.9:g.176918673C>G, NG_074198.1:g.265C>A, NG_074198.1:g.265C>G

Select item 148813928918.

rs1488139289 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGCGAGCACGC>- [Show Flanks]
Chromosome:: 5:177492150 (GRCh38)
5:176919151 (GRCh37)
Canonical SPDI:: NC_000005.10:177492147:GCGGGCGAGCACGC:GC
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0.000142/2 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.177492150_177492161del, NC_000005.9:g.176919151_176919162del

Select item 148800533219.

rs1488005332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:177491904 (GRCh38)
5:176918905 (GRCh37)
Canonical SPDI:: NC_000005.10:177491903:G:T
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_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_000005.10:g.177491904G>T, NC_000005.9:g.176918905G>T, NM_005451.5:c.301C>A, NM_005451.4:c.301C>A, NM_213636.3:c.301C>A, NM_213636.2:c.301C>A, NR_103804.2:n.389C>A, NR_103804.1:n.390C>A, NM_203353.1:c.301C>A, NP_005442.2:p.Pro101Thr, NP_998801.1:p.Pro101Thr

Select item 148766039320.

rs1487660393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177490811 (GRCh38)
5:176917812 (GRCh37)
Canonical SPDI:: NC_000005.10:177490810:G:A
Gene:: PDLIM7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000319/5 (TOMMO)
A=0.000342/1 (KOREAN)
A=0.001092/2 (Korea1K)
HGVS:: NC_000005.10:g.177490811G>A, NC_000005.9:g.176917812G>A

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