SNP Links for Gene (Select 65056) - SNP

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Select item 14915856731.

rs1491585673 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:57181449 (GRCh38)
5:56477276 (GRCh37)
Canonical SPDI:: NC_000005.10:57181447:AGA:A
Gene:: GPBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.57181449_57181450del, NC_000005.9:g.56477276_56477277del, NG_029503.2:g.12502_12503del

Select item 14915782562.

rs1491578256 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:57185258 (GRCh38)
5:56481085 (GRCh37)
Canonical SPDI:: NC_000005.10:57185256:TCT:T
Gene:: GPBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.57185258_57185259del, NC_000005.9:g.56481085_56481086del, NG_029503.2:g.16311_16312del

Select item 14915736383.

rs1491573638 has merged into rs532660984 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:57244738 (GRCh38)
5:56540565 (GRCh37)
Canonical SPDI:: NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:57244727:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GPBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.19329/968 (1000Genomes)
HGVS:: NC_000005.10:g.57244738_57244751del, NC_000005.10:g.57244739_57244751del, NC_000005.10:g.57244740_57244751del, NC_000005.10:g.57244741_57244751del, NC_000005.10:g.57244742_57244751del, NC_000005.10:g.57244744_57244751del, NC_000005.10:g.57244745_57244751del, NC_000005.10:g.57244746_57244751del, NC_000005.10:g.57244747_57244751del, NC_000005.10:g.57244748_57244751del, NC_000005.10:g.57244749_57244751del, NC_000005.10:g.57244750_57244751del, NC_000005.10:g.57244751del, NC_000005.10:g.57244751dup, NC_000005.10:g.57244750_57244751dup, NC_000005.10:g.57244749_57244751dup, NC_000005.10:g.57244748_57244751dup, NC_000005.10:g.57244747_57244751dup, NC_000005.10:g.57244746_57244751dup, NC_000005.10:g.57244745_57244751dup, NC_000005.10:g.57244744_57244751dup, NC_000005.10:g.57244743_57244751dup, NC_000005.10:g.57244742_57244751dup, NC_000005.10:g.57244741_57244751dup, NC_000005.10:g.57244739_57244751dup, NC_000005.10:g.57244738_57244751dup, NC_000005.10:g.57244737_57244751dup, NC_000005.10:g.57244736_57244751dup, NC_000005.10:g.57244735_57244751dup, NC_000005.10:g.57244734_57244751dup, NC_000005.10:g.57244728_57244751dup, NC_000005.10:g.57244751_57244752insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.57244751_57244752insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.57244751_57244752insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.57244751_57244752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.57244751_57244752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.57244751_57244752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.57244751_57244752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.57244751_57244752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.56540565_56540578del, NC_000005.9:g.56540566_56540578del, NC_000005.9:g.56540567_56540578del, NC_000005.9:g.56540568_56540578del, NC_000005.9:g.56540569_56540578del, NC_000005.9:g.56540571_56540578del, NC_000005.9:g.56540572_56540578del, NC_000005.9:g.56540573_56540578del, NC_000005.9:g.56540574_56540578del, NC_000005.9:g.56540575_56540578del, NC_000005.9:g.56540576_56540578del, NC_000005.9:g.56540577_56540578del, NC_000005.9:g.56540578del, NC_000005.9:g.56540578dup, NC_000005.9:g.56540577_56540578dup, NC_000005.9:g.56540576_56540578dup, NC_000005.9:g.56540575_56540578dup, NC_000005.9:g.56540574_56540578dup, NC_000005.9:g.56540573_56540578dup, NC_000005.9:g.56540572_56540578dup, NC_000005.9:g.56540571_56540578dup, NC_000005.9:g.56540570_56540578dup, NC_000005.9:g.56540569_56540578dup, NC_000005.9:g.56540568_56540578dup, NC_000005.9:g.56540566_56540578dup, NC_000005.9:g.56540565_56540578dup, NC_000005.9:g.56540564_56540578dup, NC_000005.9:g.56540563_56540578dup, NC_000005.9:g.56540562_56540578dup, NC_000005.9:g.56540561_56540578dup, NC_000005.9:g.56540555_56540578dup, NC_000005.9:g.56540578_56540579insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.56540578_56540579insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.56540578_56540579insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.56540578_56540579insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.56540578_56540579insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.56540578_56540579insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.56540578_56540579insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.56540578_56540579insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029503.2:g.75791_75804del, NG_029503.2:g.75792_75804del, NG_029503.2:g.75793_75804del, NG_029503.2:g.75794_75804del, NG_029503.2:g.75795_75804del, NG_029503.2:g.75797_75804del, NG_029503.2:g.75798_75804del, NG_029503.2:g.75799_75804del, NG_029503.2:g.75800_75804del, NG_029503.2:g.75801_75804del, NG_029503.2:g.75802_75804del, NG_029503.2:g.75803_75804del, NG_029503.2:g.75804del, NG_029503.2:g.75804dup, NG_029503.2:g.75803_75804dup, NG_029503.2:g.75802_75804dup, NG_029503.2:g.75801_75804dup, NG_029503.2:g.75800_75804dup, NG_029503.2:g.75799_75804dup, NG_029503.2:g.75798_75804dup, NG_029503.2:g.75797_75804dup, NG_029503.2:g.75796_75804dup, NG_029503.2:g.75795_75804dup, NG_029503.2:g.75794_75804dup, NG_029503.2:g.75792_75804dup, NG_029503.2:g.75791_75804dup, NG_029503.2:g.75790_75804dup, NG_029503.2:g.75789_75804dup, NG_029503.2:g.75788_75804dup, NG_029503.2:g.75787_75804dup, NG_029503.2:g.75781_75804dup, NG_029503.2:g.75804_75805insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029503.2:g.75804_75805insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029503.2:g.75804_75805insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029503.2:g.75804_75805insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029503.2:g.75804_75805insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029503.2:g.75804_75805insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029503.2:g.75804_75805insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029503.2:g.75804_75805insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915572544.

rs1491557254 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAC,AAAC,AAC,AACC,AC,ACC [Show Flanks]
Chromosome:: 5:57219418 (GRCh38)
5:56515246 (GRCh37)
Canonical SPDI:: NC_000005.10:57219418::AAAAC,NC_000005.10:57219418::AAAC,NC_000005.10:57219418::AAC,NC_000005.10:57219418::AACC,NC_000005.10:57219418::AC,NC_000005.10:57219418::ACC
Gene:: GPBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAC=0./0 (ALFA)
AAC=0.00003/1 (GnomAD)
AC=0.00037/3 (TOMMO)
HGVS:: NC_000005.10:g.57219418_57219419insAAAAC, NC_000005.10:g.57219418_57219419insAAAC, NC_000005.10:g.57219418_57219419insAAC, NC_000005.10:g.57219418_57219419insAACC, NC_000005.10:g.57219418_57219419insAC, NC_000005.10:g.57219418_57219419insACC, NC_000005.9:g.56515245_56515246insAAAAC, NC_000005.9:g.56515245_56515246insAAAC, NC_000005.9:g.56515245_56515246insAAC, NC_000005.9:g.56515245_56515246insAACC, NC_000005.9:g.56515245_56515246insAC, NC_000005.9:g.56515245_56515246insACC, NG_029503.2:g.50471_50472insAAAAC, NG_029503.2:g.50471_50472insAAAC, NG_029503.2:g.50471_50472insAAC, NG_029503.2:g.50471_50472insAACC, NG_029503.2:g.50471_50472insAC, NG_029503.2:g.50471_50472insACC

Select item 14915480845.

rs1491548084 has merged into rs11346369 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT [Show Flanks]
Chromosome:: 5:57216876 (GRCh38)
5:56512703 (GRCh37)
Canonical SPDI:: NC_000005.10:57216868:TTTTTTTTTTT:TTTTTTT,NC_000005.10:57216868:TTTTTTTTTTT:TTTTTTTTT,NC_000005.10:57216868:TTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:57216868:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: GPBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.088902/1490 (TOMMO)
T=0.230431/1154 (1000Genomes)
T=0.265424/70255 (TOPMED)
T=0.303581/1170 (ALSPAC)
T=0.303937/1127 (TWINSUK)
T=0.328333/197 (NorthernSweden)
T=0.375/15 (GENOME_DK)
HGVS:: NC_000005.10:g.57216876_57216879del, NC_000005.10:g.57216878_57216879del, NC_000005.10:g.57216879del, NC_000005.10:g.57216879dup, NC_000005.9:g.56512703_56512706del, NC_000005.9:g.56512705_56512706del, NC_000005.9:g.56512706del, NC_000005.9:g.56512706dup, NG_029503.2:g.47929_47932del, NG_029503.2:g.47931_47932del, NG_029503.2:g.47932del, NG_029503.2:g.47932dup

Select item 14915472876.

rs1491547287 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAACGCTTTTTTTTT [Show Flanks]
Chromosome:: 5:57216869 (GRCh38)
5:56512697 (GRCh37)
Canonical SPDI:: NC_000005.10:57216869:TTTTTTTTT:TTTTTTTTTGGAACGCTTTTTTTTT
Gene:: GPBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTTTGGAACGCTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTGGAACGC=0.0001/1 (GnomAD)
HGVS:: NC_000005.10:g.57216870_57216878T[9]GGAACGCTTTTTTTTT[1], NC_000005.9:g.56512697_56512705T[9]GGAACGCTTTTTTTTT[1], NG_029503.2:g.47923_47931T[9]GGAACGCTTTTTTTTT[1]

Select item 14915470057.

rs1491547005 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CC [Show Flanks]
Chromosome:: 5:57200049 (GRCh38)
5:56495877 (GRCh37)
Canonical SPDI:: NC_000005.10:57200049:C:CC,NC_000005.10:57200049:C:CCC
Gene:: GPBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000005.10:g.57200050dup, NC_000005.10:g.57200050_57200051insCC, NC_000005.9:g.56495877dup, NC_000005.9:g.56495877_56495878insCC, NG_029503.2:g.31103dup, NG_029503.2:g.31103_31104insCC

Select item 14915341288.

rs1491534128 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:57177678 (GRCh38)
5:56473506 (GRCh37)
Canonical SPDI:: NC_000005.10:57177678:A:AA
Gene:: GPBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000005.10:g.57177679dup, NC_000005.9:g.56473506dup, NG_029503.2:g.8732dup

Select item 14915323179.

rs1491532317 has merged into rs1491499004 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:57219419 (GRCh38)
5:56515246 (GRCh37)
Canonical SPDI:: NC_000005.10:57219417:ACA:A
Gene:: GPBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00051/6 (ALFA)
-=0.00163/17 (TOMMO)
-=0.00293/4 (Korea1K)
-=0.00522/228 (GnomAD)
HGVS:: NC_000005.10:g.57219419_57219420del, NC_000005.9:g.56515246_56515247del, NG_029503.2:g.50472_50473del

Select item 149153105010.

rs1491531050 has merged into rs1208389262 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:57220915 (GRCh38)
5:56516742 (GRCh37)
Canonical SPDI:: NC_000005.10:57220912:CTCT:CT
Gene:: GPBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
HGVS:: NC_000005.10:g.57220913CT[1], NC_000005.9:g.56516740CT[1], NG_029503.2:g.51966CT[1]

Select item 149152459311.

rs1491524593 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGT [Show Flanks]
Chromosome:: 5:57230731 (GRCh38)
5:56526559 (GRCh37)
Canonical SPDI:: NC_000005.10:57230731::GGT
Gene:: GPBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGT=0.000071/1 (ALFA)
GGT=0.000029/4 (GnomAD)
GGT=0.000049/13 (TOPMED)
HGVS:: NC_000005.10:g.57230731_57230732insGGT, NC_000005.9:g.56526558_56526559insGGT, NG_029503.2:g.61784_61785insGGT

Select item 149152418712.

rs1491524187 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:57190601 (GRCh38)
5:56486428 (GRCh37)
Canonical SPDI:: NC_000005.10:57190599:AGA:A
Gene:: GPBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.57190601_57190602del, NC_000005.9:g.56486428_56486429del, NG_029503.2:g.21654_21655del

Select item 149151373113.

rs1491513731 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:57200020 (GRCh38)
5:56495848 (GRCh37)
Canonical SPDI:: NC_000005.10:57200020:C:CC
Gene:: GPBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.57200021dup, NC_000005.9:g.56495848dup, NG_029503.2:g.31074dup

Select item 149149900414.

rs1491499004 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:57219419 (GRCh38)
5:56515246 (GRCh37)
Canonical SPDI:: NC_000005.10:57219417:ACA:A
Gene:: GPBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00051/6 (ALFA)
-=0.00163/17 (TOMMO)
-=0.00293/4 (Korea1K)
-=0.00522/228 (GnomAD)
HGVS:: NC_000005.10:g.57219419_57219420del, NC_000005.9:g.56515246_56515247del, NG_029503.2:g.50472_50473del

Select item 149147025615.

rs1491470256 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:57259298 (GRCh38)
5:56555126 (GRCh37)
Canonical SPDI:: NC_000005.10:57259298:A:AA
Gene:: GPBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000142/2 (ALFA)
A=0.000034/9 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000005.10:g.57259299dup, NC_000005.9:g.56555126dup, NG_029503.2:g.90352dup

Select item 149144061716.

rs1491440617 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:57259299 (GRCh38)
5:56555126 (GRCh37)
Canonical SPDI:: NC_000005.10:57259297:TAT:T
Gene:: GPBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.57259299_57259300del, NC_000005.9:g.56555126_56555127del, NG_029503.2:g.90352_90353del

Select item 149143863317.

rs1491438633 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:57177678 (GRCh38)
5:56473505 (GRCh37)
Canonical SPDI:: NC_000005.10:57177677:TA:
Gene:: GPBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000253/3 (ALFA)
-=0.000073/8 (GnomAD)
HGVS:: NC_000005.10:g.57177678_57177679del, NC_000005.9:g.56473505_56473506del, NG_029503.2:g.8731_8732del

Select item 149143767018.

rs1491437670 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:57200050 (GRCh38)
5:56495877 (GRCh37)
Canonical SPDI:: NC_000005.10:57200048:TCT:T
Gene:: GPBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0011/13 (ALFA)
-=0.00015/4 (TOMMO)
HGVS:: NC_000005.10:g.57200050_57200051del, NC_000005.9:g.56495877_56495878del, NG_029503.2:g.31103_31104del

Select item 149143620519.

rs1491436205 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,AAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:57219404 (GRCh38)
5:56515232 (GRCh37)
Canonical SPDI:: NC_000005.10:57219404::A,NC_000005.10:57219404::AA,NC_000005.10:57219404::AAA,NC_000005.10:57219404::AAAA,NC_000005.10:57219404::AAAAAAAAA,NC_000005.10:57219404::AAAAAAAAAA,NC_000005.10:57219404::AAAAAAAAAAAA
Gene:: GPBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000005.10:g.57219404_57219405insA, NC_000005.10:g.57219404_57219405insAA, NC_000005.10:g.57219404_57219405insAAA, NC_000005.10:g.57219404_57219405insAAAA, NC_000005.10:g.57219404_57219405insAAAAAAAAA, NC_000005.10:g.57219404_57219405insAAAAAAAAAA, NC_000005.10:g.57219404_57219405insAAAAAAAAAAAA, NC_000005.9:g.56515231_56515232insA, NC_000005.9:g.56515231_56515232insAA, NC_000005.9:g.56515231_56515232insAAA, NC_000005.9:g.56515231_56515232insAAAA, NC_000005.9:g.56515231_56515232insAAAAAAAAA, NC_000005.9:g.56515231_56515232insAAAAAAAAAA, NC_000005.9:g.56515231_56515232insAAAAAAAAAAAA, NG_029503.2:g.50457_50458insA, NG_029503.2:g.50457_50458insAA, NG_029503.2:g.50457_50458insAAA, NG_029503.2:g.50457_50458insAAAA, NG_029503.2:g.50457_50458insAAAAAAAAA, NG_029503.2:g.50457_50458insAAAAAAAAAA, NG_029503.2:g.50457_50458insAAAAAAAAAAAA

Select item 149134901320.

rs1491349013 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:57196305 (GRCh38)
5:56492133 (GRCh37)
Canonical SPDI:: NC_000005.10:57196305:A:AA
Gene:: GPBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000044/6 (GnomAD)
HGVS:: NC_000005.10:g.57196306dup, NC_000005.9:g.56492133dup, NG_029503.2:g.27359dup

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