SNP Links for Gene (Select 5786) - SNP

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Select item 14915719841.

rs1491571984 has merged into rs1440497415 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 20:3007852 (GRCh38)
20:2988498 (GRCh37)
Canonical SPDI:: NC_000020.11:3007838:TATATATATATATATAT:TATATATATATAT,NC_000020.11:3007838:TATATATATATATATAT:TATATATATATATAT,NC_000020.11:3007838:TATATATATATATATAT:TATATATATATATATATAT,NC_000020.11:3007838:TATATATATATATATAT:TATATATATATATATATATAT
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATAT=0./0 (ALFA)
-=0.00248/42 (TOMMO)
-=0.00437/8 (Korea1K)
TA=0.02333/14 (NorthernSweden)
HGVS:: NC_000020.11:g.3007840AT[6], NC_000020.11:g.3007840AT[7], NC_000020.11:g.3007840AT[9], NC_000020.11:g.3007840AT[10], NC_000020.10:g.2988486AT[6], NC_000020.10:g.2988486AT[7], NC_000020.10:g.2988486AT[9], NC_000020.10:g.2988486AT[10]

Select item 14915705592.

rs1491570559 has merged into rs201816584 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,ATAT,ATATATAT,ATATATATAT,ATATATATATATAT [Show Flanks]
Chromosome:: 20:2869988 (GRCh38)
20:2850634 (GRCh37)
Canonical SPDI:: NC_000020.11:2869977:ATATATATATATATAT:ATATATATAT,NC_000020.11:2869977:ATATATATATATATAT:ATATATATATATAT,NC_000020.11:2869977:ATATATATATATATAT:ATATATATATATATATAT,NC_000020.11:2869977:ATATATATATATATAT:ATATATATATATATATATAT,NC_000020.11:2869977:ATATATATATATATAT:ATATATATATATATATATATATAT
Gene:: PTPRA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
AT=0.000225/1 (Estonian)
AT=0.02496/125 (1000Genomes)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000020.11:g.2869978AT[5], NC_000020.11:g.2869978AT[7], NC_000020.11:g.2869978AT[9], NC_000020.11:g.2869978AT[10], NC_000020.11:g.2869978AT[12], NC_000020.10:g.2850624AT[5], NC_000020.10:g.2850624AT[7], NC_000020.10:g.2850624AT[9], NC_000020.10:g.2850624AT[10], NC_000020.10:g.2850624AT[12]

Select item 14915565173.

rs1491556517 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGT [Show Flanks]
Chromosome:: 20:2914443 (GRCh38)
20:2895090 (GRCh37)
Canonical SPDI:: NC_000020.11:2914443:T:TGT,NC_000020.11:2914443:T:TGTGT,NC_000020.11:2914443:T:TGTGTGT
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
TGTG=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2914444_2914445insGT, NC_000020.11:g.2914444_2914445insGTGT, NC_000020.11:g.2914445GT[3], NC_000020.10:g.2895090_2895091insGT, NC_000020.10:g.2895090_2895091insGTGT, NC_000020.10:g.2895091GT[3]

Select item 14915564124.

rs1491556412 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 20:2921342 (GRCh38)
20:2901988 (GRCh37)
Canonical SPDI:: NC_000020.11:2921341:TG:
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.001855/22 (ALFA)
-=0.000581/79 (GnomAD)
HGVS:: NC_000020.11:g.2921342_2921343del, NC_000020.10:g.2901988_2901989del

Select item 14915503505.

rs1491550350 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:2954077 (GRCh38)
20:2934723 (GRCh37)
Canonical SPDI:: NC_000020.11:2954076:CT:
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.2954077_2954078del, NC_000020.10:g.2934723_2934724del

Select item 14915492086.

rs1491549208 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 20:2909840 (GRCh38)
20:2890486 (GRCh37)
Canonical SPDI:: NC_000020.11:2909832:ATATATATA:ATATATA
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATA=0.000084/1 (ALFA)
-=0.000054/6 (GnomAD)
HGVS:: NC_000020.11:g.2909834TA[3], NC_000020.10:g.2890480TA[3]

Select item 14915463127.

rs1491546312 has merged into rs990322411 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCGCGCG>-,CGCG,CGCGCG,CGCGCGCGCG,CGCGCGCGCGCG [Show Flanks]
Chromosome:: 20:2873529 (GRCh38)
20:2854175 (GRCh37)
Canonical SPDI:: NC_000020.11:2873522:CGCGCGCGCGCGCG:CGCGCG,NC_000020.11:2873522:CGCGCGCGCGCGCG:CGCGCGCGCG,NC_000020.11:2873522:CGCGCGCGCGCGCG:CGCGCGCGCGCG,NC_000020.11:2873522:CGCGCGCGCGCGCG:CGCGCGCGCGCGCGCG,NC_000020.11:2873522:CGCGCGCGCGCGCG:CGCGCGCGCGCGCGCGCG
Gene:: PTPRA (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGCGCG=0./0 (ALFA)
CG=0.00016/1 (1000Genomes)
CG=0.00022/1 (Estonian)
CG=0.00035/6 (TOMMO)
CG=0.00227/4 (Korea1K)
HGVS:: NC_000020.11:g.2873523CG[3], NC_000020.11:g.2873523CG[5], NC_000020.11:g.2873523CG[6], NC_000020.11:g.2873523CG[8], NC_000020.11:g.2873523CG[9], NC_000020.10:g.2854169CG[3], NC_000020.10:g.2854169CG[5], NC_000020.10:g.2854169CG[6], NC_000020.10:g.2854169CG[8], NC_000020.10:g.2854169CG[9], NM_080841.3:c.-456CG[3], NM_080841.3:c.-456CG[5], NM_080841.3:c.-456CG[6], NM_080841.3:c.-456CG[8], NM_080841.3:c.-456CG[9], NM_080840.3:c.-366CG[3], NM_080840.3:c.-366CG[5], NM_080840.3:c.-366CG[6], NM_080840.3:c.-366CG[8], NM_080840.3:c.-366CG[9], NM_080840.2:c.-366CG[3], NM_080840.2:c.-366CG[5], NM_080840.2:c.-366CG[6], NM_080840.2:c.-366CG[8], NM_080840.2:c.-366CG[9], NR_170936.1:n.43CG[3], NR_170936.1:n.43CG[5], NR_170936.1:n.43CG[6], NR_170936.1:n.43CG[8], NR_170936.1:n.43CG[9], NM_001388321.1:c.-499CG[3], NM_001388321.1:c.-499CG[5], NM_001388321.1:c.-499CG[6], NM_001388321.1:c.-499CG[8], NM_001388321.1:c.-499CG[9], NM_001388324.1:c.-1439CG[3], NM_001388324.1:c.-1439CG[5], NM_001388324.1:c.-1439CG[6], NM_001388324.1:c.-1439CG[8], NM_001388324.1:c.-1439CG[9], NM_001385306.1:c.-459CG[3], NM_001385306.1:c.-459CG[5], NM_001385306.1:c.-459CG[6], NM_001385306.1:c.-459CG[8], NM_001385306.1:c.-459CG[9], NM_001388320.1:c.-456CG[3], NM_001388320.1:c.-456CG[5], NM_001388320.1:c.-456CG[6], NM_001388320.1:c.-456CG[8], NM_001388320.1:c.-456CG[9], NM_001388323.1:c.-1412CG[3], NM_001388323.1:c.-1412CG[5], NM_001388323.1:c.-1412CG[6], NM_001388323.1:c.-1412CG[8], NM_001388323.1:c.-1412CG[9], NM_001385302.1:c.-383CG[3], NM_001385302.1:c.-383CG[5], NM_001385302.1:c.-383CG[6], NM_001385302.1:c.-383CG[8], NM_001385302.1:c.-383CG[9], NM_001388322.1:c.-1369CG[3], NM_001388322.1:c.-1369CG[5], NM_001388322.1:c.-1369CG[6], NM_001388322.1:c.-1369CG[8], NM_001388322.1:c.-1369CG[9], NM_001385305.1:c.-366CG[3], NM_001385305.1:c.-366CG[5], NM_001385305.1:c.-366CG[6], NM_001385305.1:c.-366CG[8], NM_001385305.1:c.-366CG[9], NM_001385312.1:c.-366CG[3], NM_001385312.1:c.-366CG[5], NM_001385312.1:c.-366CG[6], NM_001385312.1:c.-366CG[8], NM_001385312.1:c.-366CG[9], NM_001385303.1:c.-290CG[3], NM_001385303.1:c.-290CG[5], NM_001385303.1:c.-290CG[6], NM_001385303.1:c.-290CG[8], NM_001385303.1:c.-290CG[9], NM_001385304.1:c.-290CG[3], NM_001385304.1:c.-290CG[5], NM_001385304.1:c.-290CG[6], NM_001385304.1:c.-290CG[8], NM_001385304.1:c.-290CG[9], NM_001385310.1:c.-290CG[3], NM_001385310.1:c.-290CG[5], NM_001385310.1:c.-290CG[6], NM_001385310.1:c.-290CG[8], NM_001385310.1:c.-290CG[9], NM_001385307.1:c.-287CG[3], NM_001385307.1:c.-287CG[5], NM_001385307.1:c.-287CG[6], NM_001385307.1:c.-287CG[8], NM_001385307.1:c.-287CG[9], NM_001385308.1:c.-244CG[3], NM_001385308.1:c.-244CG[5], NM_001385308.1:c.-244CG[6], NM_001385308.1:c.-244CG[8], NM_001385308.1:c.-244CG[9], NM_001385311.1:c.-244CG[3], NM_001385311.1:c.-244CG[5], NM_001385311.1:c.-244CG[6], NM_001385311.1:c.-244CG[8], NM_001385311.1:c.-244CG[9], NM_001385314.1:c.-366CG[3], NM_001385314.1:c.-366CG[5], NM_001385314.1:c.-366CG[6], NM_001385314.1:c.-366CG[8], NM_001385314.1:c.-366CG[9], NM_001385320.1:c.-459CG[3], NM_001385320.1:c.-459CG[5], NM_001385320.1:c.-459CG[6], NM_001385320.1:c.-459CG[8], NM_001385320.1:c.-459CG[9], NM_001385315.1:c.-366CG[3], NM_001385315.1:c.-366CG[5], NM_001385315.1:c.-366CG[6], NM_001385315.1:c.-366CG[8], NM_001385315.1:c.-366CG[9], NM_001385317.1:c.-366CG[3], NM_001385317.1:c.-366CG[5], NM_001385317.1:c.-366CG[6], NM_001385317.1:c.-366CG[8], NM_001385317.1:c.-366CG[9], NM_001385313.1:c.-290CG[3], NM_001385313.1:c.-290CG[5], NM_001385313.1:c.-290CG[6], NM_001385313.1:c.-290CG[8], NM_001385313.1:c.-290CG[9], NM_001385316.1:c.-290CG[3], NM_001385316.1:c.-290CG[5], NM_001385316.1:c.-290CG[6], NM_001385316.1:c.-290CG[8], NM_001385316.1:c.-290CG[9], NM_001385319.1:c.-366CG[3], NM_001385319.1:c.-366CG[5], NM_001385319.1:c.-366CG[6], NM_001385319.1:c.-366CG[8], NM_001385319.1:c.-366CG[9], NM_001385321.1:c.-366CG[3], NM_001385321.1:c.-366CG[5], NM_001385321.1:c.-366CG[6], NM_001385321.1:c.-366CG[8], NM_001385321.1:c.-366CG[9], NM_001385318.1:c.-290CG[3], NM_001385318.1:c.-290CG[5], NM_001385318.1:c.-290CG[6], NM_001385318.1:c.-290CG[8], NM_001385318.1:c.-290CG[9]

Select item 14915419938.

rs1491541993 [Homo sapiens]

Variant type:: SNV:
Alleles:: >
Chromosome:: no mapping
Canonical SPDI:

Select item 14915232269.

rs1491523226 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:3008746 (GRCh38)
20:2989393 (GRCh37)
Canonical SPDI:: NC_000020.11:3008746::C
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00008/2 (TOMMO)
C=0.00037/23 (GnomAD)
HGVS:: NC_000020.11:g.3008746_3008747insC, NC_000020.10:g.2989392_2989393insC

Select item 149151801110.

rs1491518011 has merged into rs11087563 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 20:3025465 (GRCh38)
20:3006111 (GRCh37)
Canonical SPDI:: NC_000020.11:3025452:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:3025452:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:3025452:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:3025452:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:3025452:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:3025452:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:3025452:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:3025452:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3025452:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3025452:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.363/1818 (1000Genomes)
HGVS:: NC_000020.11:g.3025465_3025471del, NC_000020.11:g.3025467_3025471del, NC_000020.11:g.3025468_3025471del, NC_000020.11:g.3025469_3025471del, NC_000020.11:g.3025470_3025471del, NC_000020.11:g.3025471del, NC_000020.11:g.3025471dup, NC_000020.11:g.3025470_3025471dup, NC_000020.11:g.3025469_3025471dup, NC_000020.11:g.3025468_3025471dup, NC_000020.10:g.3006111_3006117del, NC_000020.10:g.3006113_3006117del, NC_000020.10:g.3006114_3006117del, NC_000020.10:g.3006115_3006117del, NC_000020.10:g.3006116_3006117del, NC_000020.10:g.3006117del, NC_000020.10:g.3006117dup, NC_000020.10:g.3006116_3006117dup, NC_000020.10:g.3006115_3006117dup, NC_000020.10:g.3006114_3006117dup

Select item 149151766511.

rs1491517665 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:3029116 (GRCh38)
20:3009762 (GRCh37)
Canonical SPDI:: NC_000020.11:3029115:AT:
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001433/17 (ALFA)
-=0.002558/332 (GnomAD)
-=0.025632/430 (TOMMO)
HGVS:: NC_000020.11:g.3029116_3029117del, NC_000020.10:g.3009762_3009763del

Select item 149151155712.

rs1491511557 has merged into rs777386962 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTT>-,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTCTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:2926773 (GRCh38)
20:2907419 (GRCh37)
Canonical SPDI:: NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTCTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2926769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TTTTTTTTTTTTTTTTTTTTT=0.025/1 (GENOME_DK)
HGVS:: NC_000020.11:g.2926773_2926793del, NC_000020.11:g.2926782_2926793del, NC_000020.11:g.2926784_2926793del, NC_000020.11:g.2926785_2926793del, NC_000020.11:g.2926786_2926793del, NC_000020.11:g.2926787_2926793del, NC_000020.11:g.2926788_2926793del, NC_000020.11:g.2926789_2926793del, NC_000020.11:g.2926790_2926793del, NC_000020.11:g.2926791_2926793del, NC_000020.11:g.2926792_2926793del, NC_000020.11:g.2926793del, NC_000020.11:g.2926793dup, NC_000020.11:g.2926770_2926793T[25]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926770_2926793T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926770_2926793T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926770_2926793T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926770_2926793T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926770_2926793T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926792_2926793dup, NC_000020.11:g.2926770_2926793T[26]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926770_2926793T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926770_2926793T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926770_2926793T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926791_2926793dup, NC_000020.11:g.2926770_2926793T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926770_2926793T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926790_2926793dup, NC_000020.11:g.2926789_2926793dup, NC_000020.11:g.2926788_2926793dup, NC_000020.11:g.2926787_2926793dup, NC_000020.11:g.2926786_2926793dup, NC_000020.11:g.2926785_2926793dup, NC_000020.11:g.2926782_2926793dup, NC_000020.11:g.2926781_2926793dup, NC_000020.11:g.2926780_2926793dup, NC_000020.11:g.2926779_2926793dup, NC_000020.11:g.2926778_2926793dup, NC_000020.11:g.2926777_2926793dup, NC_000020.11:g.2926776_2926793dup, NC_000020.11:g.2926770_2926793T[42]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926775_2926793dup, NC_000020.11:g.2926770_2926793T[43]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926770_2926793T[43]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926774_2926793dup, NC_000020.11:g.2926770_2926793T[44]CTTTTTTCTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926773_2926793dup, NC_000020.11:g.2926770_2926793T[45]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.2926772_2926793dup, NC_000020.11:g.2926771_2926793dup, NC_000020.11:g.2926770_2926793dup, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2926793_2926794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907419_2907439del, NC_000020.10:g.2907428_2907439del, NC_000020.10:g.2907430_2907439del, NC_000020.10:g.2907431_2907439del, NC_000020.10:g.2907432_2907439del, NC_000020.10:g.2907433_2907439del, NC_000020.10:g.2907434_2907439del, NC_000020.10:g.2907435_2907439del, NC_000020.10:g.2907436_2907439del, NC_000020.10:g.2907437_2907439del, NC_000020.10:g.2907438_2907439del, NC_000020.10:g.2907439del, NC_000020.10:g.2907439dup, NC_000020.10:g.2907416_2907439T[25]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907416_2907439T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907416_2907439T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907416_2907439T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907416_2907439T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907416_2907439T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907438_2907439dup, NC_000020.10:g.2907416_2907439T[26]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907416_2907439T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907416_2907439T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907416_2907439T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907437_2907439dup, NC_000020.10:g.2907416_2907439T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907416_2907439T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907436_2907439dup, NC_000020.10:g.2907435_2907439dup, NC_000020.10:g.2907434_2907439dup, NC_000020.10:g.2907433_2907439dup, NC_000020.10:g.2907432_2907439dup, NC_000020.10:g.2907431_2907439dup, NC_000020.10:g.2907428_2907439dup, NC_000020.10:g.2907427_2907439dup, NC_000020.10:g.2907426_2907439dup, NC_000020.10:g.2907425_2907439dup, NC_000020.10:g.2907424_2907439dup, NC_000020.10:g.2907423_2907439dup, NC_000020.10:g.2907422_2907439dup, NC_000020.10:g.2907416_2907439T[42]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907421_2907439dup, NC_000020.10:g.2907416_2907439T[43]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907416_2907439T[43]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907420_2907439dup, NC_000020.10:g.2907416_2907439T[44]CTTTTTTCTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907419_2907439dup, NC_000020.10:g.2907416_2907439T[45]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.2907418_2907439dup, NC_000020.10:g.2907417_2907439dup, NC_000020.10:g.2907416_2907439dup, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2907439_2907440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149148860413.

rs1491488604 has merged into rs58694839 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:2983580 (GRCh38)
20:2964226 (GRCh37)
Canonical SPDI:: NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2983568:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.0233/12 (NorthernSweden)
A=0.371/1858 (1000Genomes)
HGVS:: NC_000020.11:g.2983580_2983587del, NC_000020.11:g.2983581_2983587del, NC_000020.11:g.2983582_2983587del, NC_000020.11:g.2983583_2983587del, NC_000020.11:g.2983584_2983587del, NC_000020.11:g.2983585_2983587del, NC_000020.11:g.2983586_2983587del, NC_000020.11:g.2983587del, NC_000020.11:g.2983587dup, NC_000020.11:g.2983586_2983587dup, NC_000020.11:g.2983584_2983587dup, NC_000020.11:g.2983582_2983587dup, NC_000020.11:g.2983581_2983587dup, NC_000020.11:g.2983580_2983587dup, NC_000020.11:g.2983575_2983587dup, NC_000020.11:g.2983574_2983587dup, NC_000020.11:g.2983573_2983587dup, NC_000020.10:g.2964226_2964233del, NC_000020.10:g.2964227_2964233del, NC_000020.10:g.2964228_2964233del, NC_000020.10:g.2964229_2964233del, NC_000020.10:g.2964230_2964233del, NC_000020.10:g.2964231_2964233del, NC_000020.10:g.2964232_2964233del, NC_000020.10:g.2964233del, NC_000020.10:g.2964233dup, NC_000020.10:g.2964232_2964233dup, NC_000020.10:g.2964230_2964233dup, NC_000020.10:g.2964228_2964233dup, NC_000020.10:g.2964227_2964233dup, NC_000020.10:g.2964226_2964233dup, NC_000020.10:g.2964221_2964233dup, NC_000020.10:g.2964220_2964233dup, NC_000020.10:g.2964219_2964233dup

Select item 149148172414.

rs1491481724 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:2881022 (GRCh38)
20:2861668 (GRCh37)
Canonical SPDI:: NC_000020.11:2881019:AGAG:AG
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
HGVS:: NC_000020.11:g.2881020AG[1], NC_000020.10:g.2861666AG[1]

Select item 149147246315.

rs1491472463 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATA [Show Flanks]
Chromosome:: 20:2909988 (GRCh38)
20:2890635 (GRCh37)
Canonical SPDI:: NC_000020.11:2909988:ATA:ATAATA
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAATA=0./0 (ALFA)
ATA=0.00003/3 (GnomAD)
HGVS:: NC_000020.11:g.2909989_2909991dup, NC_000020.10:g.2890635_2890637dup

Select item 149145840516.

rs1491458405 has merged into rs560575967 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 20:3025878 (GRCh38)
20:3006524 (GRCh37)
Canonical SPDI:: NC_000020.11:3025868:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:3025868:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:3025868:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:3025868:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:3025868:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:3025868:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:3025868:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:3025868:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.175719/880 (1000Genomes)
HGVS:: NC_000020.11:g.3025878_3025886del, NC_000020.11:g.3025880_3025886del, NC_000020.11:g.3025883_3025886del, NC_000020.11:g.3025884_3025886del, NC_000020.11:g.3025885_3025886del, NC_000020.11:g.3025886del, NC_000020.11:g.3025886dup, NC_000020.11:g.3025885_3025886dup, NC_000020.10:g.3006524_3006532del, NC_000020.10:g.3006526_3006532del, NC_000020.10:g.3006529_3006532del, NC_000020.10:g.3006530_3006532del, NC_000020.10:g.3006531_3006532del, NC_000020.10:g.3006532del, NC_000020.10:g.3006532dup, NC_000020.10:g.3006531_3006532dup

Select item 149144394117.

rs1491443941 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 20:2945949 (GRCh38)
20:2926596 (GRCh37)
Canonical SPDI:: NC_000020.11:2945949:A:ACA
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0.000108/2 (ALFA)
AC=0.000008/2 (TOPMED)
AC=0.000022/3 (GnomAD)
HGVS:: NC_000020.11:g.2945950_2945951insCA, NC_000020.10:g.2926596_2926597insCA

Select item 149142834118.

rs1491428341 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:2914445 (GRCh38)
20:2895091 (GRCh37)
Canonical SPDI:: NC_000020.11:2914442:CTCT:CT
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000169/2 (ALFA)
-=0.000164/20 (GnomAD)
-=0.001249/8 (1000Genomes)
HGVS:: NC_000020.11:g.2914443CT[1], NC_000020.10:g.2895089CT[1]

Select item 149142790719.

rs1491427907 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA,AAAA [Show Flanks]
Chromosome:: 20:2910404 (GRCh38)
20:2891051 (GRCh37)
Canonical SPDI:: NC_000020.11:2910404::AA,NC_000020.11:2910404::AAAA
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AAAA=0.00165/95 (GnomAD)
HGVS:: NC_000020.11:g.2910404_2910405insAA, NC_000020.11:g.2910404_2910405insAAAA, NC_000020.10:g.2891050_2891051insAA, NC_000020.10:g.2891050_2891051insAAAA

Select item 149140724520.

rs1491407245 has merged into rs56081198 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:2868629 (GRCh38)
20:2849275 (GRCh37)
Canonical SPDI:: NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2868618:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PTPRA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.2868629_2868648del, NC_000020.11:g.2868630_2868648del, NC_000020.11:g.2868631_2868648del, NC_000020.11:g.2868632_2868648del, NC_000020.11:g.2868633_2868648del, NC_000020.11:g.2868634_2868648del, NC_000020.11:g.2868635_2868648del, NC_000020.11:g.2868636_2868648del, NC_000020.11:g.2868637_2868648del, NC_000020.11:g.2868638_2868648del, NC_000020.11:g.2868639_2868648del, NC_000020.11:g.2868640_2868648del, NC_000020.11:g.2868641_2868648del, NC_000020.11:g.2868642_2868648del, NC_000020.11:g.2868643_2868648del, NC_000020.11:g.2868644_2868648del, NC_000020.11:g.2868645_2868648del, NC_000020.11:g.2868646_2868648del, NC_000020.11:g.2868647_2868648del, NC_000020.11:g.2868648del, NC_000020.11:g.2868648dup, NC_000020.11:g.2868647_2868648dup, NC_000020.11:g.2868646_2868648dup, NC_000020.11:g.2868645_2868648dup, NC_000020.11:g.2868644_2868648dup, NC_000020.11:g.2868642_2868648dup, NC_000020.11:g.2868640_2868648dup, NC_000020.11:g.2868638_2868648dup, NC_000020.11:g.2868626_2868648dup, NC_000020.10:g.2849275_2849294del, NC_000020.10:g.2849276_2849294del, NC_000020.10:g.2849277_2849294del, NC_000020.10:g.2849278_2849294del, NC_000020.10:g.2849279_2849294del, NC_000020.10:g.2849280_2849294del, NC_000020.10:g.2849281_2849294del, NC_000020.10:g.2849282_2849294del, NC_000020.10:g.2849283_2849294del, NC_000020.10:g.2849284_2849294del, NC_000020.10:g.2849285_2849294del, NC_000020.10:g.2849286_2849294del, NC_000020.10:g.2849287_2849294del, NC_000020.10:g.2849288_2849294del, NC_000020.10:g.2849289_2849294del, NC_000020.10:g.2849290_2849294del, NC_000020.10:g.2849291_2849294del, NC_000020.10:g.2849292_2849294del, NC_000020.10:g.2849293_2849294del, NC_000020.10:g.2849294del, NC_000020.10:g.2849294dup, NC_000020.10:g.2849293_2849294dup, NC_000020.10:g.2849292_2849294dup, NC_000020.10:g.2849291_2849294dup, NC_000020.10:g.2849290_2849294dup, NC_000020.10:g.2849288_2849294dup, NC_000020.10:g.2849286_2849294dup, NC_000020.10:g.2849284_2849294dup, NC_000020.10:g.2849272_2849294dup

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