SNP Links for Gene (Select 9185) - SNP

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Select item 14915659681.

rs1491565968 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: X:17050210 (GRCh38)
X:17068333 (GRCh37)
Canonical SPDI:: NC_000023.11:17050209:TG:
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.17050210_17050211del, NC_000023.10:g.17068333_17068334del, NG_012557.1:g.108520_108521del

Select item 14915588892.

rs1491558889 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:17050210 (GRCh38)
X:17068334 (GRCh37)
Canonical SPDI:: NC_000023.11:17050210:G:GG
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000023.11:g.17050211dup, NC_000023.10:g.17068334dup, NG_012557.1:g.108521dup

Select item 14915401023.

rs1491540102 has merged into rs200986826 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:17050196 (GRCh38)
X:17068319 (GRCh37)
Canonical SPDI:: NC_000023.11:17050194:TTTTTTTTTTTTTTTT:T,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:17050194:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.17050196_17050210del, NC_000023.11:g.17050197_17050210del, NC_000023.11:g.17050198_17050210del, NC_000023.11:g.17050199_17050210del, NC_000023.11:g.17050200_17050210del, NC_000023.11:g.17050201_17050210del, NC_000023.11:g.17050202_17050210del, NC_000023.11:g.17050204_17050210del, NC_000023.11:g.17050205_17050210del, NC_000023.11:g.17050206_17050210del, NC_000023.11:g.17050207_17050210del, NC_000023.11:g.17050208_17050210del, NC_000023.11:g.17050209_17050210del, NC_000023.11:g.17050210del, NC_000023.11:g.17050210dup, NC_000023.11:g.17050209_17050210dup, NC_000023.11:g.17050208_17050210dup, NC_000023.11:g.17050207_17050210dup, NC_000023.11:g.17050206_17050210dup, NC_000023.11:g.17050205_17050210dup, NC_000023.11:g.17050204_17050210dup, NC_000023.10:g.17068319_17068333del, NC_000023.10:g.17068320_17068333del, NC_000023.10:g.17068321_17068333del, NC_000023.10:g.17068322_17068333del, NC_000023.10:g.17068323_17068333del, NC_000023.10:g.17068324_17068333del, NC_000023.10:g.17068325_17068333del, NC_000023.10:g.17068327_17068333del, NC_000023.10:g.17068328_17068333del, NC_000023.10:g.17068329_17068333del, NC_000023.10:g.17068330_17068333del, NC_000023.10:g.17068331_17068333del, NC_000023.10:g.17068332_17068333del, NC_000023.10:g.17068333del, NC_000023.10:g.17068333dup, NC_000023.10:g.17068332_17068333dup, NC_000023.10:g.17068331_17068333dup, NC_000023.10:g.17068330_17068333dup, NC_000023.10:g.17068329_17068333dup, NC_000023.10:g.17068328_17068333dup, NC_000023.10:g.17068327_17068333dup, NG_012557.1:g.108506_108520del, NG_012557.1:g.108507_108520del, NG_012557.1:g.108508_108520del, NG_012557.1:g.108509_108520del, NG_012557.1:g.108510_108520del, NG_012557.1:g.108511_108520del, NG_012557.1:g.108512_108520del, NG_012557.1:g.108514_108520del, NG_012557.1:g.108515_108520del, NG_012557.1:g.108516_108520del, NG_012557.1:g.108517_108520del, NG_012557.1:g.108518_108520del, NG_012557.1:g.108519_108520del, NG_012557.1:g.108520del, NG_012557.1:g.108520dup, NG_012557.1:g.108519_108520dup, NG_012557.1:g.108518_108520dup, NG_012557.1:g.108517_108520dup, NG_012557.1:g.108516_108520dup, NG_012557.1:g.108515_108520dup, NG_012557.1:g.108514_108520dup

Select item 14915321564.

rs1491532156 has merged into rs58601747 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC,ACACAC,ACACACAC,ACACACACAC [Show Flanks]
Chromosome:: X:17180638 (GRCh38)
X:17198761 (GRCh37)
Canonical SPDI:: NC_000023.11:17180624:CACACACACACACACAC:CACACACACACAC,NC_000023.11:17180624:CACACACACACACACAC:CACACACACACACAC,NC_000023.11:17180624:CACACACACACACACAC:CACACACACACACACACAC,NC_000023.11:17180624:CACACACACACACACAC:CACACACACACACACACACAC,NC_000023.11:17180624:CACACACACACACACAC:CACACACACACACACACACACAC
Gene:: REPS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACAC=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
-=0.17745/2279 (TOMMO)
-=0.22917/11 (Vietnamese)
HGVS:: NC_000023.11:g.17180626AC[6], NC_000023.11:g.17180626AC[7], NC_000023.11:g.17180626AC[9], NC_000023.11:g.17180626AC[10], NC_000023.11:g.17180626AC[11], NC_000023.10:g.17198749AC[6], NC_000023.10:g.17198749AC[7], NC_000023.10:g.17198749AC[9], NC_000023.10:g.17198749AC[10], NC_000023.10:g.17198749AC[11]

Select item 14915248375.

rs1491524837 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: X:17050195 (GRCh38)
X:17068319 (GRCh37)
Canonical SPDI:: NC_000023.11:17050195:T:TCT
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000023.11:g.17050196_17050197insCT, NC_000023.10:g.17068319_17068320insCT, NG_012557.1:g.108506_108507insCT

Select item 14914992846.

rs1491499284 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:16953100 (GRCh38)
X:16971223 (GRCh37)
Canonical SPDI:: NC_000023.11:16953098:AAA:A
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
-=0.0026/191 (GnomAD)
HGVS:: NC_000023.11:g.16953100_16953101del, NC_000023.10:g.16971223_16971224del, NG_012557.1:g.11410_11411del

Select item 14914739817.

rs1491473981 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: X:17018603 (GRCh38)
X:17036727 (GRCh37)
Canonical SPDI:: NC_000023.11:17018603:TT:TTCTT
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTC=0.00062/3 (GnomAD)
HGVS:: NC_000023.11:g.17018605_17018606insCTT, NC_000023.10:g.17036728_17036729insCTT, NG_012557.1:g.76915_76916insCTT

Select item 14914687838.

rs1491468783 has merged into rs10567369 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:17113098 (GRCh38)
X:17131221 (GRCh37)
Canonical SPDI:: NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:17113091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.17113098_17113116del, NC_000023.11:g.17113101_17113116del, NC_000023.11:g.17113102_17113116del, NC_000023.11:g.17113103_17113116del, NC_000023.11:g.17113105_17113116del, NC_000023.11:g.17113106_17113116del, NC_000023.11:g.17113107_17113116del, NC_000023.11:g.17113108_17113116del, NC_000023.11:g.17113109_17113116del, NC_000023.11:g.17113110_17113116del, NC_000023.11:g.17113111_17113116del, NC_000023.11:g.17113112_17113116del, NC_000023.11:g.17113113_17113116del, NC_000023.11:g.17113114_17113116del, NC_000023.11:g.17113115_17113116del, NC_000023.11:g.17113116del, NC_000023.11:g.17113116dup, NC_000023.11:g.17113115_17113116dup, NC_000023.11:g.17113114_17113116dup, NC_000023.11:g.17113113_17113116dup, NC_000023.11:g.17113112_17113116dup, NC_000023.11:g.17113111_17113116dup, NC_000023.11:g.17113110_17113116dup, NC_000023.11:g.17113108_17113116dup, NC_000023.11:g.17113107_17113116dup, NC_000023.10:g.17131221_17131239del, NC_000023.10:g.17131224_17131239del, NC_000023.10:g.17131225_17131239del, NC_000023.10:g.17131226_17131239del, NC_000023.10:g.17131228_17131239del, NC_000023.10:g.17131229_17131239del, NC_000023.10:g.17131230_17131239del, NC_000023.10:g.17131231_17131239del, NC_000023.10:g.17131232_17131239del, NC_000023.10:g.17131233_17131239del, NC_000023.10:g.17131234_17131239del, NC_000023.10:g.17131235_17131239del, NC_000023.10:g.17131236_17131239del, NC_000023.10:g.17131237_17131239del, NC_000023.10:g.17131238_17131239del, NC_000023.10:g.17131239del, NC_000023.10:g.17131239dup, NC_000023.10:g.17131238_17131239dup, NC_000023.10:g.17131237_17131239dup, NC_000023.10:g.17131236_17131239dup, NC_000023.10:g.17131235_17131239dup, NC_000023.10:g.17131234_17131239dup, NC_000023.10:g.17131233_17131239dup, NC_000023.10:g.17131231_17131239dup, NC_000023.10:g.17131230_17131239dup, NG_012557.1:g.171408_171426del, NG_012557.1:g.171411_171426del, NG_012557.1:g.171412_171426del, NG_012557.1:g.171413_171426del, NG_012557.1:g.171415_171426del, NG_012557.1:g.171416_171426del, NG_012557.1:g.171417_171426del, NG_012557.1:g.171418_171426del, NG_012557.1:g.171419_171426del, NG_012557.1:g.171420_171426del, NG_012557.1:g.171421_171426del, NG_012557.1:g.171422_171426del, NG_012557.1:g.171423_171426del, NG_012557.1:g.171424_171426del, NG_012557.1:g.171425_171426del, NG_012557.1:g.171426del, NG_012557.1:g.171426dup, NG_012557.1:g.171425_171426dup, NG_012557.1:g.171424_171426dup, NG_012557.1:g.171423_171426dup, NG_012557.1:g.171422_171426dup, NG_012557.1:g.171421_171426dup, NG_012557.1:g.171420_171426dup, NG_012557.1:g.171418_171426dup, NG_012557.1:g.171417_171426dup

Select item 14914441299.

rs1491444129 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:16960379 (GRCh38)
X:16978503 (GRCh37)
Canonical SPDI:: NC_000023.11:16960379:G:GG
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000112/1 (GnomAD)
HGVS:: NC_000023.11:g.16960380dup, NC_000023.10:g.16978503dup, NG_012557.1:g.18690dup

Select item 149137529910.

rs1491375299 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:17113091 (GRCh38)
X:17131214 (GRCh37)
Canonical SPDI:: NC_000023.11:17113090:CA:
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00211/25 (ALFA)
-=0.00099/19 (TOMMO)
HGVS:: NC_000023.11:g.17113091_17113092del, NC_000023.10:g.17131214_17131215del, NG_012557.1:g.171401_171402del

Select item 149133956611.

rs1491339566 has merged into rs74473321 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCCC [Show Flanks]
Chromosome:: X:16951562 (GRCh38)
X:16969685 (GRCh37)
Canonical SPDI:: NC_000023.11:16951559:CCCCC:CC,NC_000023.11:16951559:CCCCC:CCC,NC_000023.11:16951559:CCCCC:CCCC,NC_000023.11:16951559:CCCCC:CCCCCC,NC_000023.11:16951559:CCCCC:CCCCCCC,NC_000023.11:16951559:CCCCC:CCCCCCCC,NC_000023.11:16951559:CCCCC:CCCCCCCCC,NC_000023.11:16951559:CCCCC:CCCCCCCCCC,NC_000023.11:16951559:CCCCC:CCCCCCCCCCC,NC_000023.11:16951559:CCCCC:CCCCCCCCCCCC,NC_000023.11:16951559:CCCCC:CCCCCCCCCCCCCC
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000023.11:g.16951562_16951564del, NC_000023.11:g.16951563_16951564del, NC_000023.11:g.16951564del, NC_000023.11:g.16951564dup, NC_000023.11:g.16951563_16951564dup, NC_000023.11:g.16951562_16951564dup, NC_000023.11:g.16951561_16951564dup, NC_000023.11:g.16951560_16951564dup, NC_000023.11:g.16951564_16951565insCCCCCC, NC_000023.11:g.16951564_16951565insCCCCCCC, NC_000023.11:g.16951564_16951565insCCCCCCCCC, NC_000023.10:g.16969685_16969687del, NC_000023.10:g.16969686_16969687del, NC_000023.10:g.16969687del, NC_000023.10:g.16969687dup, NC_000023.10:g.16969686_16969687dup, NC_000023.10:g.16969685_16969687dup, NC_000023.10:g.16969684_16969687dup, NC_000023.10:g.16969683_16969687dup, NC_000023.10:g.16969687_16969688insCCCCCC, NC_000023.10:g.16969687_16969688insCCCCCCC, NC_000023.10:g.16969687_16969688insCCCCCCCCC, NG_012557.1:g.9872_9874del, NG_012557.1:g.9873_9874del, NG_012557.1:g.9874del, NG_012557.1:g.9874dup, NG_012557.1:g.9873_9874dup, NG_012557.1:g.9872_9874dup, NG_012557.1:g.9871_9874dup, NG_012557.1:g.9870_9874dup, NG_012557.1:g.9874_9875insCCCCCC, NG_012557.1:g.9874_9875insCCCCCCC, NG_012557.1:g.9874_9875insCCCCCCCCC

Select item 149133810112.

rs1491338101 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: X:17050193 (GRCh38)
X:17068317 (GRCh37)
Canonical SPDI:: NC_000023.11:17050193:C:CC
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000023.11:g.17050194dup, NC_000023.10:g.17068317dup, NG_012557.1:g.108504dup

Select item 149129474713.

rs1491294747 has merged into rs35448158 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: X:16989263 (GRCh38)
X:17007386 (GRCh37)
Canonical SPDI:: NC_000023.11:16989251:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:16989251:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:16989251:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:16989251:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:16989251:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:16989251:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:16989251:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:16989251:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.1661/616 (TWINSUK)
A=0.177/668 (1000Genomes)
A=0.1779/514 (ALSPAC)
HGVS:: NC_000023.11:g.16989263_16989266del, NC_000023.11:g.16989264_16989266del, NC_000023.11:g.16989265_16989266del, NC_000023.11:g.16989266del, NC_000023.11:g.16989266dup, NC_000023.11:g.16989265_16989266dup, NC_000023.11:g.16989264_16989266dup, NC_000023.11:g.16989262_16989266dup, NC_000023.10:g.17007386_17007389del, NC_000023.10:g.17007387_17007389del, NC_000023.10:g.17007388_17007389del, NC_000023.10:g.17007389del, NC_000023.10:g.17007389dup, NC_000023.10:g.17007388_17007389dup, NC_000023.10:g.17007387_17007389dup, NC_000023.10:g.17007385_17007389dup, NG_012557.1:g.47573_47576del, NG_012557.1:g.47574_47576del, NG_012557.1:g.47575_47576del, NG_012557.1:g.47576del, NG_012557.1:g.47576dup, NG_012557.1:g.47575_47576dup, NG_012557.1:g.47574_47576dup, NG_012557.1:g.47572_47576dup

Select item 149129025414.

rs1491290254 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCG [Show Flanks]
Chromosome:: X:17030342 (GRCh38)
X:17048466 (GRCh37)
Canonical SPDI:: NC_000023.11:17030342:G:GTGCG
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGCG=0.00025/3 (ALFA)
GTGC=0.00005/5 (GnomAD)
GTGC=0.00021/1 (1000Genomes)
GTGC=0.00032/4 (TOMMO)
HGVS:: NC_000023.11:g.17030343_17030344insTGCG, NC_000023.10:g.17048466_17048467insTGCG, NG_012557.1:g.88653_88654insTGCG

Select item 149121333915.

rs1491213339 has merged into rs66504615 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: X:17093210 (GRCh38)
X:17111333 (GRCh37)
Canonical SPDI:: NC_000023.11:17093201:TTTTTTTTTT:TTTTTTTT,NC_000023.11:17093201:TTTTTTTTTT:TTTTTTTTT,NC_000023.11:17093201:TTTTTTTTTT:TTTTTTTTTTT
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.0224/278 (TOMMO)
-=0.10039/2108 (GnomAD)
T=0.19453/562 (ALSPAC)
T=0.19768/733 (TWINSUK)
T=0.25/9 (GENOME_DK)
HGVS:: NC_000023.11:g.17093210_17093211del, NC_000023.11:g.17093211del, NC_000023.11:g.17093211dup, NC_000023.10:g.17111333_17111334del, NC_000023.10:g.17111334del, NC_000023.10:g.17111334dup, NG_012557.1:g.151520_151521del, NG_012557.1:g.151521del, NG_012557.1:g.151521dup

Select item 149114404316.

rs1491144043 has merged into rs55964545 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATACACACACGTACATATATATACATATATATATA,TATATA,TATATATA [Show Flanks]
Chromosome:: X:16994380 (GRCh38)
X:17012503 (GRCh37)
Canonical SPDI:: NC_000023.11:16994372:ATATATATA:ATATATA,NC_000023.11:16994372:ATATATATA:ATATATATATA,NC_000023.11:16994372:ATATATATA:ATATATATATACACACACGTACATATATATACATATATATATA,NC_000023.11:16994372:ATATATATA:ATATATATATATA,NC_000023.11:16994372:ATATATATA:ATATATATATATATA
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
ATATAT=0.000011/3 (TOPMED)
-=0.001325/5 (1000Genomes)
AT=0.118526/1522 (TOMMO)
AT=0.1875/9 (Vietnamese)
AT=0.475/19 (GENOME_DK)
HGVS:: NC_000023.11:g.16994374TA[3], NC_000023.11:g.16994374TA[5], NC_000023.11:g.16994373_16994381AT[5]AC[4]GTACATATATATACATATATATATA[1], NC_000023.11:g.16994374TA[6], NC_000023.11:g.16994374TA[7], NC_000023.10:g.17012497TA[3], NC_000023.10:g.17012497TA[5], NC_000023.10:g.17012496_17012504AT[5]AC[4]GTACATATATATACATATATATATA[1], NC_000023.10:g.17012497TA[6], NC_000023.10:g.17012497TA[7], NG_012557.1:g.52684TA[3], NG_012557.1:g.52684TA[5], NG_012557.1:g.52683_52691AT[5]AC[4]GTACATATATATACATATATATATA[1], NG_012557.1:g.52684TA[6], NG_012557.1:g.52684TA[7]

Select item 149114158217.

rs1491141582 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: X:16953099 (GRCh38)
X:16971223 (GRCh37)
Canonical SPDI:: NC_000023.11:16953099::C
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.16953099_16953100insC, NC_000023.10:g.16971222_16971223insC, NG_012557.1:g.11409_11410insC

Select item 149112601718.

rs1491126017 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: X:17050190 (GRCh38)
X:17068313 (GRCh37)
Canonical SPDI:: NC_000023.11:17050188:TCT:T
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.17050190_17050191del, NC_000023.10:g.17068313_17068314del, NG_012557.1:g.108500_108501del

Select item 149104316319.

rs1491043163 has merged into rs774691950 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:17087981 (GRCh38)
X:17106104 (GRCh37)
Canonical SPDI:: NC_000023.11:17087979:AAA:A
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.17087981_17087982del, NC_000023.10:g.17106104_17106105del, NG_012557.1:g.146291_146292del

Select item 149103728320.

rs1491037283 has merged into rs369203546 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: X:17098624 (GRCh38)
X:17116747 (GRCh37)
Canonical SPDI:: NC_000023.11:17098610:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000023.11:17098610:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000023.11:17098610:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000023.11:17098610:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000023.11:17098610:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000023.11:17098610:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:17098610:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:17098610:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:17098610:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:17098610:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: REPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.1759/664 (1000Genomes)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000023.11:g.17098612GT[6], NC_000023.11:g.17098612GT[7], NC_000023.11:g.17098612GT[8], NC_000023.11:g.17098612GT[9], NC_000023.11:g.17098612GT[10], NC_000023.11:g.17098612GT[12], NC_000023.11:g.17098612GT[13], NC_000023.11:g.17098612GT[14], NC_000023.11:g.17098612GT[15], NC_000023.11:g.17098612GT[16], NC_000023.10:g.17116735GT[6], NC_000023.10:g.17116735GT[7], NC_000023.10:g.17116735GT[8], NC_000023.10:g.17116735GT[9], NC_000023.10:g.17116735GT[10], NC_000023.10:g.17116735GT[12], NC_000023.10:g.17116735GT[13], NC_000023.10:g.17116735GT[14], NC_000023.10:g.17116735GT[15], NC_000023.10:g.17116735GT[16], NG_007618.5:g.2010CA[6], NG_007618.5:g.2010CA[7], NG_007618.5:g.2010CA[8], NG_007618.5:g.2010CA[9], NG_007618.5:g.2010CA[10], NG_007618.5:g.2010CA[12], NG_007618.5:g.2010CA[13], NG_007618.5:g.2010CA[14], NG_007618.5:g.2010CA[15], NG_007618.5:g.2010CA[16], NG_012557.1:g.156922GT[6], NG_012557.1:g.156922GT[7], NG_012557.1:g.156922GT[8], NG_012557.1:g.156922GT[9], NG_012557.1:g.156922GT[10], NG_012557.1:g.156922GT[12], NG_012557.1:g.156922GT[13], NG_012557.1:g.156922GT[14], NG_012557.1:g.156922GT[15], NG_012557.1:g.156922GT[16]

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