SNP Links for Gene (Select 9782) - SNP

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Select item 14915834411.

rs1491583441 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:139319860 (GRCh38)
5:138655549 (GRCh37)
Canonical SPDI:: NC_000005.10:139319859:CT:
Gene:: MATR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
-=0.00004/1 (GnomAD)
HGVS:: NC_000005.10:g.139319860_139319861del, NC_000005.9:g.138655549_138655550del, NG_012846.1:g.50758_50759del

Select item 14915720112.

rs1491572011 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:139313327 (GRCh38)
5:138649016 (GRCh37)
Canonical SPDI:: NC_000005.10:139313325:TCT:T
Gene:: MATR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.26518/1022 (ALSPAC)
HGVS:: NC_000005.10:g.139313327_139313328del, NC_000005.9:g.138649016_138649017del, NG_012846.1:g.44225_44226del

Select item 14915568943.

rs1491556894 [Homo sapiens]

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

Select item 14915436124.

rs1491543612 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 5:139278718 (GRCh38)
5:138614407 (GRCh37)
Canonical SPDI:: NC_000005.10:139278717:CG:
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.139278718_139278719del, NC_000005.9:g.138614407_138614408del, NG_012846.1:g.9616_9617del, XR_007058957.1:n.346_347del, XR_007058958.1:n.342_343del, XR_007058959.1:n.248_249del

Select item 14915397625.

rs1491539762 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:139309671 (GRCh38)
5:138645361 (GRCh37)
Canonical SPDI:: NC_000005.10:139309671:A:AA
Gene:: MATR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.139309672dup, NC_000005.9:g.138645361dup, NG_012846.1:g.40570dup

Select item 14914355556.

rs1491435555 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTGGAGTGCCTAGA [Show Flanks]
Chromosome:: 5:139278718 (GRCh38)
5:138614408 (GRCh37)
Canonical SPDI:: NC_000005.10:139278718::CTGGAGTGCCTAGA
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTGGAGTGCCTAGA=0./0 (ALFA)
CTGGAGTGCCTAGA=0./0 (GnomAD)
CTGGAGTGCCTAGA=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.139278718_139278719insCTGGAGTGCCTAGA, NC_000005.9:g.138614407_138614408insCTGGAGTGCCTAGA, NG_012846.1:g.9616_9617insCTGGAGTGCCTAGA, XR_007058957.1:n.346_347insTCTAGGCACTCCAG, XR_007058958.1:n.342_343insTCTAGGCACTCCAG, XR_007058959.1:n.248_249insTCTAGGCACTCCAG

Select item 14914319547.

rs1491431954 has merged into rs72412077 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:139286854 (GRCh38)
5:138622543 (GRCh37)
Canonical SPDI:: NC_000005.10:139286843:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:139286843:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:139286843:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:139286843:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:139286843:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:139286843:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:139286843:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:139286843:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: MATR3 (Varview), LOC124901081 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.275/11 (GENOME_DK)
AA=0.3586/213 (NorthernSweden)
-=0.4241/2124 (1000Genomes)
HGVS:: NC_000005.10:g.139286854_139286857del, NC_000005.10:g.139286855_139286857del, NC_000005.10:g.139286856_139286857del, NC_000005.10:g.139286857del, NC_000005.10:g.139286857dup, NC_000005.10:g.139286856_139286857dup, NC_000005.10:g.139286854_139286857dup, NC_000005.10:g.139286850_139286857dup, NC_000005.9:g.138622543_138622546del, NC_000005.9:g.138622544_138622546del, NC_000005.9:g.138622545_138622546del, NC_000005.9:g.138622546del, NC_000005.9:g.138622546dup, NC_000005.9:g.138622545_138622546dup, NC_000005.9:g.138622543_138622546dup, NC_000005.9:g.138622539_138622546dup, NG_012846.1:g.17752_17755del, NG_012846.1:g.17753_17755del, NG_012846.1:g.17754_17755del, NG_012846.1:g.17755del, NG_012846.1:g.17755dup, NG_012846.1:g.17754_17755dup, NG_012846.1:g.17752_17755dup, NG_012846.1:g.17748_17755dup

Select item 14913691018.

rs1491369101 has merged into rs762364450 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:139290452 (GRCh38)
5:138626141 (GRCh37)
Canonical SPDI:: NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139290438:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MATR3 (Varview), LOC124901081 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000005.10:g.139290452_139290466del, NC_000005.10:g.139290453_139290466del, NC_000005.10:g.139290454_139290466del, NC_000005.10:g.139290455_139290466del, NC_000005.10:g.139290456_139290466del, NC_000005.10:g.139290457_139290466del, NC_000005.10:g.139290458_139290466del, NC_000005.10:g.139290459_139290466del, NC_000005.10:g.139290460_139290466del, NC_000005.10:g.139290461_139290466del, NC_000005.10:g.139290462_139290466del, NC_000005.10:g.139290463_139290466del, NC_000005.10:g.139290464_139290466del, NC_000005.10:g.139290465_139290466del, NC_000005.10:g.139290466del, NC_000005.10:g.139290466dup, NC_000005.10:g.139290465_139290466dup, NC_000005.10:g.139290464_139290466dup, NC_000005.10:g.139290463_139290466dup, NC_000005.10:g.139290462_139290466dup, NC_000005.10:g.139290461_139290466dup, NC_000005.10:g.139290460_139290466dup, NC_000005.10:g.139290459_139290466dup, NC_000005.10:g.139290458_139290466dup, NC_000005.10:g.139290457_139290466dup, NC_000005.10:g.139290456_139290466dup, NC_000005.10:g.139290455_139290466dup, NC_000005.10:g.139290454_139290466dup, NC_000005.10:g.139290453_139290466dup, NC_000005.10:g.139290452_139290466dup, NC_000005.10:g.139290451_139290466dup, NC_000005.10:g.139290450_139290466dup, NC_000005.10:g.139290449_139290466dup, NC_000005.10:g.139290448_139290466dup, NC_000005.10:g.139290447_139290466dup, NC_000005.10:g.139290445_139290466dup, NC_000005.10:g.139290439_139290466dup, NC_000005.9:g.138626141_138626155del, NC_000005.9:g.138626142_138626155del, NC_000005.9:g.138626143_138626155del, NC_000005.9:g.138626144_138626155del, NC_000005.9:g.138626145_138626155del, NC_000005.9:g.138626146_138626155del, NC_000005.9:g.138626147_138626155del, NC_000005.9:g.138626148_138626155del, NC_000005.9:g.138626149_138626155del, NC_000005.9:g.138626150_138626155del, NC_000005.9:g.138626151_138626155del, NC_000005.9:g.138626152_138626155del, NC_000005.9:g.138626153_138626155del, NC_000005.9:g.138626154_138626155del, NC_000005.9:g.138626155del, NC_000005.9:g.138626155dup, NC_000005.9:g.138626154_138626155dup, NC_000005.9:g.138626153_138626155dup, NC_000005.9:g.138626152_138626155dup, NC_000005.9:g.138626151_138626155dup, NC_000005.9:g.138626150_138626155dup, NC_000005.9:g.138626149_138626155dup, NC_000005.9:g.138626148_138626155dup, NC_000005.9:g.138626147_138626155dup, NC_000005.9:g.138626146_138626155dup, NC_000005.9:g.138626145_138626155dup, NC_000005.9:g.138626144_138626155dup, NC_000005.9:g.138626143_138626155dup, NC_000005.9:g.138626142_138626155dup, NC_000005.9:g.138626141_138626155dup, NC_000005.9:g.138626140_138626155dup, NC_000005.9:g.138626139_138626155dup, NC_000005.9:g.138626138_138626155dup, NC_000005.9:g.138626137_138626155dup, NC_000005.9:g.138626136_138626155dup, NC_000005.9:g.138626134_138626155dup, NC_000005.9:g.138626128_138626155dup, NG_012846.1:g.21350_21364del, NG_012846.1:g.21351_21364del, NG_012846.1:g.21352_21364del, NG_012846.1:g.21353_21364del, NG_012846.1:g.21354_21364del, NG_012846.1:g.21355_21364del, NG_012846.1:g.21356_21364del, NG_012846.1:g.21357_21364del, NG_012846.1:g.21358_21364del, NG_012846.1:g.21359_21364del, NG_012846.1:g.21360_21364del, NG_012846.1:g.21361_21364del, NG_012846.1:g.21362_21364del, NG_012846.1:g.21363_21364del, NG_012846.1:g.21364del, NG_012846.1:g.21364dup, NG_012846.1:g.21363_21364dup, NG_012846.1:g.21362_21364dup, NG_012846.1:g.21361_21364dup, NG_012846.1:g.21360_21364dup, NG_012846.1:g.21359_21364dup, NG_012846.1:g.21358_21364dup, NG_012846.1:g.21357_21364dup, NG_012846.1:g.21356_21364dup, NG_012846.1:g.21355_21364dup, NG_012846.1:g.21354_21364dup, NG_012846.1:g.21353_21364dup, NG_012846.1:g.21352_21364dup, NG_012846.1:g.21351_21364dup, NG_012846.1:g.21350_21364dup, NG_012846.1:g.21349_21364dup, NG_012846.1:g.21348_21364dup, NG_012846.1:g.21347_21364dup, NG_012846.1:g.21346_21364dup, NG_012846.1:g.21345_21364dup, NG_012846.1:g.21343_21364dup, NG_012846.1:g.21337_21364dup

Select item 14912396069.

rs1491239606 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:139313326 (GRCh38)
5:138649016 (GRCh37)
Canonical SPDI:: NC_000005.10:139313326:C:CC
Gene:: MATR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000005.10:g.139313327dup, NC_000005.9:g.138649016dup, NG_012846.1:g.44225dup

Select item 149121792710.

rs1491217927 has merged into rs767660135 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:139324299 (GRCh38)
5:138659988 (GRCh37)
Canonical SPDI:: NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139324290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MATR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.139324299_139324310del, NC_000005.10:g.139324300_139324310del, NC_000005.10:g.139324301_139324310del, NC_000005.10:g.139324302_139324310del, NC_000005.10:g.139324303_139324310del, NC_000005.10:g.139324304_139324310del, NC_000005.10:g.139324305_139324310del, NC_000005.10:g.139324306_139324310del, NC_000005.10:g.139324307_139324310del, NC_000005.10:g.139324308_139324310del, NC_000005.10:g.139324309_139324310del, NC_000005.10:g.139324310del, NC_000005.10:g.139324310dup, NC_000005.10:g.139324309_139324310dup, NC_000005.10:g.139324308_139324310dup, NC_000005.10:g.139324307_139324310dup, NC_000005.10:g.139324306_139324310dup, NC_000005.10:g.139324305_139324310dup, NC_000005.10:g.139324304_139324310dup, NC_000005.10:g.139324303_139324310dup, NC_000005.10:g.139324302_139324310dup, NC_000005.10:g.139324301_139324310dup, NC_000005.10:g.139324299_139324310dup, NC_000005.10:g.139324310_139324311insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.139324310_139324311insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.139324310_139324311insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.138659988_138659999del, NC_000005.9:g.138659989_138659999del, NC_000005.9:g.138659990_138659999del, NC_000005.9:g.138659991_138659999del, NC_000005.9:g.138659992_138659999del, NC_000005.9:g.138659993_138659999del, NC_000005.9:g.138659994_138659999del, NC_000005.9:g.138659995_138659999del, NC_000005.9:g.138659996_138659999del, NC_000005.9:g.138659997_138659999del, NC_000005.9:g.138659998_138659999del, NC_000005.9:g.138659999del, NC_000005.9:g.138659999dup, NC_000005.9:g.138659998_138659999dup, NC_000005.9:g.138659997_138659999dup, NC_000005.9:g.138659996_138659999dup, NC_000005.9:g.138659995_138659999dup, NC_000005.9:g.138659994_138659999dup, NC_000005.9:g.138659993_138659999dup, NC_000005.9:g.138659992_138659999dup, NC_000005.9:g.138659991_138659999dup, NC_000005.9:g.138659990_138659999dup, NC_000005.9:g.138659988_138659999dup, NC_000005.9:g.138659999_138660000insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.138659999_138660000insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.138659999_138660000insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012846.1:g.55197_55208del, NG_012846.1:g.55198_55208del, NG_012846.1:g.55199_55208del, NG_012846.1:g.55200_55208del, NG_012846.1:g.55201_55208del, NG_012846.1:g.55202_55208del, NG_012846.1:g.55203_55208del, NG_012846.1:g.55204_55208del, NG_012846.1:g.55205_55208del, NG_012846.1:g.55206_55208del, NG_012846.1:g.55207_55208del, NG_012846.1:g.55208del, NG_012846.1:g.55208dup, NG_012846.1:g.55207_55208dup, NG_012846.1:g.55206_55208dup, NG_012846.1:g.55205_55208dup, NG_012846.1:g.55204_55208dup, NG_012846.1:g.55203_55208dup, NG_012846.1:g.55202_55208dup, NG_012846.1:g.55201_55208dup, NG_012846.1:g.55200_55208dup, NG_012846.1:g.55199_55208dup, NG_012846.1:g.55197_55208dup, NG_012846.1:g.55208_55209insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012846.1:g.55208_55209insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012846.1:g.55208_55209insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149113946111.

rs1491139461 has merged into rs1175972721 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:139320753 (GRCh38)
5:138656442 (GRCh37)
Canonical SPDI:: NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139320743:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MATR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.139320753_139320765del, NC_000005.10:g.139320754_139320765del, NC_000005.10:g.139320755_139320765del, NC_000005.10:g.139320756_139320765del, NC_000005.10:g.139320757_139320765del, NC_000005.10:g.139320758_139320765del, NC_000005.10:g.139320759_139320765del, NC_000005.10:g.139320760_139320765del, NC_000005.10:g.139320761_139320765del, NC_000005.10:g.139320762_139320765del, NC_000005.10:g.139320763_139320765del, NC_000005.10:g.139320764_139320765del, NC_000005.10:g.139320765del, NC_000005.10:g.139320765dup, NC_000005.10:g.139320764_139320765dup, NC_000005.10:g.139320763_139320765dup, NC_000005.10:g.139320762_139320765dup, NC_000005.10:g.139320761_139320765dup, NC_000005.10:g.139320760_139320765dup, NC_000005.10:g.139320759_139320765dup, NC_000005.10:g.139320758_139320765dup, NC_000005.10:g.139320757_139320765dup, NC_000005.10:g.139320756_139320765dup, NC_000005.10:g.139320755_139320765dup, NC_000005.10:g.139320754_139320765dup, NC_000005.10:g.139320753_139320765dup, NC_000005.10:g.139320752_139320765dup, NC_000005.10:g.139320751_139320765dup, NC_000005.10:g.139320749_139320765dup, NC_000005.10:g.139320748_139320765dup, NC_000005.9:g.138656442_138656454del, NC_000005.9:g.138656443_138656454del, NC_000005.9:g.138656444_138656454del, NC_000005.9:g.138656445_138656454del, NC_000005.9:g.138656446_138656454del, NC_000005.9:g.138656447_138656454del, NC_000005.9:g.138656448_138656454del, NC_000005.9:g.138656449_138656454del, NC_000005.9:g.138656450_138656454del, NC_000005.9:g.138656451_138656454del, NC_000005.9:g.138656452_138656454del, NC_000005.9:g.138656453_138656454del, NC_000005.9:g.138656454del, NC_000005.9:g.138656454dup, NC_000005.9:g.138656453_138656454dup, NC_000005.9:g.138656452_138656454dup, NC_000005.9:g.138656451_138656454dup, NC_000005.9:g.138656450_138656454dup, NC_000005.9:g.138656449_138656454dup, NC_000005.9:g.138656448_138656454dup, NC_000005.9:g.138656447_138656454dup, NC_000005.9:g.138656446_138656454dup, NC_000005.9:g.138656445_138656454dup, NC_000005.9:g.138656444_138656454dup, NC_000005.9:g.138656443_138656454dup, NC_000005.9:g.138656442_138656454dup, NC_000005.9:g.138656441_138656454dup, NC_000005.9:g.138656440_138656454dup, NC_000005.9:g.138656438_138656454dup, NC_000005.9:g.138656437_138656454dup, NG_012846.1:g.51651_51663del, NG_012846.1:g.51652_51663del, NG_012846.1:g.51653_51663del, NG_012846.1:g.51654_51663del, NG_012846.1:g.51655_51663del, NG_012846.1:g.51656_51663del, NG_012846.1:g.51657_51663del, NG_012846.1:g.51658_51663del, NG_012846.1:g.51659_51663del, NG_012846.1:g.51660_51663del, NG_012846.1:g.51661_51663del, NG_012846.1:g.51662_51663del, NG_012846.1:g.51663del, NG_012846.1:g.51663dup, NG_012846.1:g.51662_51663dup, NG_012846.1:g.51661_51663dup, NG_012846.1:g.51660_51663dup, NG_012846.1:g.51659_51663dup, NG_012846.1:g.51658_51663dup, NG_012846.1:g.51657_51663dup, NG_012846.1:g.51656_51663dup, NG_012846.1:g.51655_51663dup, NG_012846.1:g.51654_51663dup, NG_012846.1:g.51653_51663dup, NG_012846.1:g.51652_51663dup, NG_012846.1:g.51651_51663dup, NG_012846.1:g.51650_51663dup, NG_012846.1:g.51649_51663dup, NG_012846.1:g.51647_51663dup, NG_012846.1:g.51646_51663dup

Select item 149111087612.

rs1491110876 has merged into rs58123057 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:139319871 (GRCh38)
5:138655560 (GRCh37)
Canonical SPDI:: NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139319860:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MATR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.139319871_139319888del, NC_000005.10:g.139319872_139319888del, NC_000005.10:g.139319873_139319888del, NC_000005.10:g.139319874_139319888del, NC_000005.10:g.139319875_139319888del, NC_000005.10:g.139319876_139319888del, NC_000005.10:g.139319877_139319888del, NC_000005.10:g.139319878_139319888del, NC_000005.10:g.139319879_139319888del, NC_000005.10:g.139319880_139319888del, NC_000005.10:g.139319881_139319888del, NC_000005.10:g.139319882_139319888del, NC_000005.10:g.139319883_139319888del, NC_000005.10:g.139319884_139319888del, NC_000005.10:g.139319885_139319888del, NC_000005.10:g.139319886_139319888del, NC_000005.10:g.139319887_139319888del, NC_000005.10:g.139319888del, NC_000005.10:g.139319888dup, NC_000005.10:g.139319887_139319888dup, NC_000005.10:g.139319886_139319888dup, NC_000005.10:g.139319885_139319888dup, NC_000005.10:g.139319884_139319888dup, NC_000005.10:g.139319883_139319888dup, NC_000005.10:g.139319882_139319888dup, NC_000005.10:g.139319881_139319888dup, NC_000005.10:g.139319880_139319888dup, NC_000005.9:g.138655560_138655577del, NC_000005.9:g.138655561_138655577del, NC_000005.9:g.138655562_138655577del, NC_000005.9:g.138655563_138655577del, NC_000005.9:g.138655564_138655577del, NC_000005.9:g.138655565_138655577del, NC_000005.9:g.138655566_138655577del, NC_000005.9:g.138655567_138655577del, NC_000005.9:g.138655568_138655577del, NC_000005.9:g.138655569_138655577del, NC_000005.9:g.138655570_138655577del, NC_000005.9:g.138655571_138655577del, NC_000005.9:g.138655572_138655577del, NC_000005.9:g.138655573_138655577del, NC_000005.9:g.138655574_138655577del, NC_000005.9:g.138655575_138655577del, NC_000005.9:g.138655576_138655577del, NC_000005.9:g.138655577del, NC_000005.9:g.138655577dup, NC_000005.9:g.138655576_138655577dup, NC_000005.9:g.138655575_138655577dup, NC_000005.9:g.138655574_138655577dup, NC_000005.9:g.138655573_138655577dup, NC_000005.9:g.138655572_138655577dup, NC_000005.9:g.138655571_138655577dup, NC_000005.9:g.138655570_138655577dup, NC_000005.9:g.138655569_138655577dup, NG_012846.1:g.50769_50786del, NG_012846.1:g.50770_50786del, NG_012846.1:g.50771_50786del, NG_012846.1:g.50772_50786del, NG_012846.1:g.50773_50786del, NG_012846.1:g.50774_50786del, NG_012846.1:g.50775_50786del, NG_012846.1:g.50776_50786del, NG_012846.1:g.50777_50786del, NG_012846.1:g.50778_50786del, NG_012846.1:g.50779_50786del, NG_012846.1:g.50780_50786del, NG_012846.1:g.50781_50786del, NG_012846.1:g.50782_50786del, NG_012846.1:g.50783_50786del, NG_012846.1:g.50784_50786del, NG_012846.1:g.50785_50786del, NG_012846.1:g.50786del, NG_012846.1:g.50786dup, NG_012846.1:g.50785_50786dup, NG_012846.1:g.50784_50786dup, NG_012846.1:g.50783_50786dup, NG_012846.1:g.50782_50786dup, NG_012846.1:g.50781_50786dup, NG_012846.1:g.50780_50786dup, NG_012846.1:g.50779_50786dup, NG_012846.1:g.50778_50786dup

Select item 149108549013.

rs1491085490 has merged into rs201546262 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 5:139319959 (GRCh38)
5:138655648 (GRCh37)
Canonical SPDI:: NC_000005.10:139319948:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:139319948:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:139319948:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:139319948:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:139319948:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:139319948:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:139319948:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:139319948:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:139319948:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: MATR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000005.10:g.139319959_139319962del, NC_000005.10:g.139319960_139319962del, NC_000005.10:g.139319961_139319962del, NC_000005.10:g.139319962del, NC_000005.10:g.139319962dup, NC_000005.10:g.139319961_139319962dup, NC_000005.10:g.139319960_139319962dup, NC_000005.10:g.139319959_139319962dup, NC_000005.10:g.139319958_139319962dup, NC_000005.9:g.138655648_138655651del, NC_000005.9:g.138655649_138655651del, NC_000005.9:g.138655650_138655651del, NC_000005.9:g.138655651del, NC_000005.9:g.138655651dup, NC_000005.9:g.138655650_138655651dup, NC_000005.9:g.138655649_138655651dup, NC_000005.9:g.138655648_138655651dup, NC_000005.9:g.138655647_138655651dup, NG_012846.1:g.50857_50860del, NG_012846.1:g.50858_50860del, NG_012846.1:g.50859_50860del, NG_012846.1:g.50860del, NG_012846.1:g.50860dup, NG_012846.1:g.50859_50860dup, NG_012846.1:g.50858_50860dup, NG_012846.1:g.50857_50860dup, NG_012846.1:g.50856_50860dup

Select item 149102568414.

rs1491025684 has merged into rs35759733 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:139277772 (GRCh38)
5:138613461 (GRCh37)
Canonical SPDI:: NC_000005.10:139277761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:139277761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:139277761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:139277761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:139277761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:139277761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:139277761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:139277761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:139277761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139277761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139277761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139277761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139277761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139277761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.139277772_139277780del, NC_000005.10:g.139277775_139277780del, NC_000005.10:g.139277776_139277780del, NC_000005.10:g.139277777_139277780del, NC_000005.10:g.139277778_139277780del, NC_000005.10:g.139277779_139277780del, NC_000005.10:g.139277780del, NC_000005.10:g.139277780dup, NC_000005.10:g.139277779_139277780dup, NC_000005.10:g.139277778_139277780dup, NC_000005.10:g.139277777_139277780dup, NC_000005.10:g.139277776_139277780dup, NC_000005.10:g.139277775_139277780dup, NC_000005.10:g.139277773_139277780dup, NC_000005.9:g.138613461_138613469del, NC_000005.9:g.138613464_138613469del, NC_000005.9:g.138613465_138613469del, NC_000005.9:g.138613466_138613469del, NC_000005.9:g.138613467_138613469del, NC_000005.9:g.138613468_138613469del, NC_000005.9:g.138613469del, NC_000005.9:g.138613469dup, NC_000005.9:g.138613468_138613469dup, NC_000005.9:g.138613467_138613469dup, NC_000005.9:g.138613466_138613469dup, NC_000005.9:g.138613465_138613469dup, NC_000005.9:g.138613464_138613469dup, NC_000005.9:g.138613462_138613469dup, NG_012846.1:g.8670_8678del, NG_012846.1:g.8673_8678del, NG_012846.1:g.8674_8678del, NG_012846.1:g.8675_8678del, NG_012846.1:g.8676_8678del, NG_012846.1:g.8677_8678del, NG_012846.1:g.8678del, NG_012846.1:g.8678dup, NG_012846.1:g.8677_8678dup, NG_012846.1:g.8676_8678dup, NG_012846.1:g.8675_8678dup, NG_012846.1:g.8674_8678dup, NG_012846.1:g.8673_8678dup, NG_012846.1:g.8671_8678dup

Select item 149090846915.

rs1490908469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:139303048 (GRCh38)
5:138638737 (GRCh37)
Canonical SPDI:: NC_000005.10:139303047:G:T
Gene:: MATR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0016/26 (ALFA)
T=0.00057/9 (TOMMO)
T=0.02464/72 (KOREAN)
HGVS:: NC_000005.10:g.139303048G>T, NC_000005.9:g.138638737G>T, NG_012846.1:g.33946G>T

Select item 149090045116.

rs1490900451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:139305705 (GRCh38)
5:138641394 (GRCh37)
Canonical SPDI:: NC_000005.10:139305704:C:T
Gene:: MATR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001512/28 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000193/27 (GnomAD)
T=0.000672/11 (TOMMO)
T=0.006027/27 (Estonian)
HGVS:: NC_000005.10:g.139305705C>T, NC_000005.9:g.138641394C>T, NG_012846.1:g.36603C>T

Select item 149085780517.

rs1490857805 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:139303869 (GRCh38)
5:138639558 (GRCh37)
Canonical SPDI:: NC_000005.10:139303868:T:C
Gene:: MATR3 (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.139303869T>C, NC_000005.9:g.138639558T>C, NG_012846.1:g.34767T>C

Select item 149080794218.

rs1490807942 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 5:139275171 (GRCh38)
5:138610860 (GRCh37)
Canonical SPDI:: NC_000005.10:139275170:G:
Gene:: MATR3 (Varview), SNHG4 (Varview), SNORA74D (Varview), LOC124901081 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000748/12 (ALFA)
-=0.00146/39 (TOMMO)
-=0.002774/320 (GnomAD)
HGVS:: NC_000005.10:g.139275171del, NC_000005.9:g.138610860del, NG_012846.1:g.6069del

Select item 149079454619.

rs1490794546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:139290252 (GRCh38)
5:138625941 (GRCh37)
Canonical SPDI:: NC_000005.10:139290251:T:G
Gene:: MATR3 (Varview), LOC124901081 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.139290252T>G, NC_000005.9:g.138625941T>G, NG_012846.1:g.21150T>G

Select item 149077880920.

rs1490778809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:139291093 (GRCh38)
5:138626782 (GRCh37)
Canonical SPDI:: NC_000005.10:139291092:C:G
Gene:: MATR3 (Varview), LOC124901081 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.139291093C>G, NC_000005.9:g.138626782C>G, NG_012846.1:g.21991C>G, NM_001400456.1:c.-1159C>G, NM_001400465.1:c.-1207C>G

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