SNP Links for Gene (Select 55092) - SNP

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Select item 14915672951.

rs1491567295 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:15192460 (GRCh38)
1:15518956 (GRCh37)
Canonical SPDI:: NC_000001.11:15192459:CC:
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.004552/54 (ALFA)
CC=0.228919/1466 (1000Genomes)
CC=0.30677/30931 (GnomAD)
CC=0.31252/5178 (TOMMO)
HGVS:: NC_000001.11:g.15192460_15192461del, NC_000001.10:g.15518956_15518957del, NG_026912.3:g.765_766del

Select item 14915373122.

rs1491537312 has merged into rs58498052 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:15220386 (GRCh38)
1:15546882 (GRCh37)
Canonical SPDI:: NC_000001.11:15220376:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:15220376:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:15220376:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:15220376:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:15220376:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:15220376:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:15220376:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:15220376:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:15220376:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:15220376:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:15220376:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:15220376:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM51 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.2738/1371 (1000Genomes)
HGVS:: NC_000001.11:g.15220386_15220393del, NC_000001.11:g.15220387_15220393del, NC_000001.11:g.15220388_15220393del, NC_000001.11:g.15220389_15220393del, NC_000001.11:g.15220390_15220393del, NC_000001.11:g.15220391_15220393del, NC_000001.11:g.15220392_15220393del, NC_000001.11:g.15220393del, NC_000001.11:g.15220393dup, NC_000001.11:g.15220392_15220393dup, NC_000001.11:g.15220391_15220393dup, NC_000001.11:g.15220388_15220393dup, NC_000001.10:g.15546882_15546889del, NC_000001.10:g.15546883_15546889del, NC_000001.10:g.15546884_15546889del, NC_000001.10:g.15546885_15546889del, NC_000001.10:g.15546886_15546889del, NC_000001.10:g.15546887_15546889del, NC_000001.10:g.15546888_15546889del, NC_000001.10:g.15546889del, NC_000001.10:g.15546889dup, NC_000001.10:g.15546888_15546889dup, NC_000001.10:g.15546887_15546889dup, NC_000001.10:g.15546884_15546889dup, NM_018022.3:c.*643_*650del, NM_018022.3:c.*644_*650del, NM_018022.3:c.*645_*650del, NM_018022.3:c.*646_*650del, NM_018022.3:c.*647_*650del, NM_018022.3:c.*648_*650del, NM_018022.3:c.*649_*650del, NM_018022.3:c.*650del, NM_018022.3:c.*650dup, NM_018022.3:c.*649_*650dup, NM_018022.3:c.*648_*650dup, NM_018022.3:c.*645_*650dup, NM_018022.2:c.*643_*650del, NM_018022.2:c.*644_*650del, NM_018022.2:c.*645_*650del, NM_018022.2:c.*646_*650del, NM_018022.2:c.*647_*650del, NM_018022.2:c.*648_*650del, NM_018022.2:c.*649_*650del, NM_018022.2:c.*650del, NM_018022.2:c.*650dup, NM_018022.2:c.*649_*650dup, NM_018022.2:c.*648_*650dup, NM_018022.2:c.*645_*650dup, XM_017001590.2:c.*643_*650del, XM_017001590.2:c.*644_*650del, XM_017001590.2:c.*645_*650del, XM_017001590.2:c.*646_*650del, XM_017001590.2:c.*647_*650del, XM_017001590.2:c.*648_*650del, XM_017001590.2:c.*649_*650del, XM_017001590.2:c.*650del, XM_017001590.2:c.*650dup, XM_017001590.2:c.*649_*650dup, XM_017001590.2:c.*648_*650dup, XM_017001590.2:c.*645_*650dup, XM_017001590.1:c.*643_*650del, XM_017001590.1:c.*644_*650del, XM_017001590.1:c.*645_*650del, XM_017001590.1:c.*646_*650del, XM_017001590.1:c.*647_*650del, XM_017001590.1:c.*648_*650del, XM_017001590.1:c.*649_*650del, XM_017001590.1:c.*650del, XM_017001590.1:c.*650dup, XM_017001590.1:c.*649_*650dup, XM_017001590.1:c.*648_*650dup, XM_017001590.1:c.*645_*650dup, XM_011541676.2:c.*643_*650del, XM_011541676.2:c.*644_*650del, XM_011541676.2:c.*645_*650del, XM_011541676.2:c.*646_*650del, XM_011541676.2:c.*647_*650del, XM_011541676.2:c.*648_*650del, XM_011541676.2:c.*649_*650del, XM_011541676.2:c.*650del, XM_011541676.2:c.*650dup, XM_011541676.2:c.*649_*650dup, XM_011541676.2:c.*648_*650dup, XM_011541676.2:c.*645_*650dup, XM_011541676.1:c.*643_*650del, XM_011541676.1:c.*644_*650del, XM_011541676.1:c.*645_*650del, XM_011541676.1:c.*646_*650del, XM_011541676.1:c.*647_*650del, XM_011541676.1:c.*648_*650del, XM_011541676.1:c.*649_*650del, XM_011541676.1:c.*650del, XM_011541676.1:c.*650dup, XM_011541676.1:c.*649_*650dup, XM_011541676.1:c.*648_*650dup, XM_011541676.1:c.*645_*650dup, NM_001136216.2:c.*643_*650del, NM_001136216.2:c.*644_*650del, NM_001136216.2:c.*645_*650del, NM_001136216.2:c.*646_*650del, NM_001136216.2:c.*647_*650del, NM_001136216.2:c.*648_*650del, NM_001136216.2:c.*649_*650del, NM_001136216.2:c.*650del, NM_001136216.2:c.*650dup, NM_001136216.2:c.*649_*650dup, NM_001136216.2:c.*648_*650dup, NM_001136216.2:c.*645_*650dup, NM_001136216.1:c.*643_*650del, NM_001136216.1:c.*644_*650del, NM_001136216.1:c.*645_*650del, NM_001136216.1:c.*646_*650del, NM_001136216.1:c.*647_*650del, NM_001136216.1:c.*648_*650del, NM_001136216.1:c.*649_*650del, NM_001136216.1:c.*650del, NM_001136216.1:c.*650dup, NM_001136216.1:c.*649_*650dup, NM_001136216.1:c.*648_*650dup, NM_001136216.1:c.*645_*650dup, NM_001136218.2:c.*643_*650del, NM_001136218.2:c.*644_*650del, NM_001136218.2:c.*645_*650del, NM_001136218.2:c.*646_*650del, NM_001136218.2:c.*647_*650del, NM_001136218.2:c.*648_*650del, NM_001136218.2:c.*649_*650del, NM_001136218.2:c.*650del, NM_001136218.2:c.*650dup, NM_001136218.2:c.*649_*650dup, NM_001136218.2:c.*648_*650dup, NM_001136218.2:c.*645_*650dup, NM_001136218.1:c.*643_*650del, NM_001136218.1:c.*644_*650del, NM_001136218.1:c.*645_*650del, NM_001136218.1:c.*646_*650del, NM_001136218.1:c.*647_*650del, NM_001136218.1:c.*648_*650del, NM_001136218.1:c.*649_*650del, NM_001136218.1:c.*650del, NM_001136218.1:c.*650dup, NM_001136218.1:c.*649_*650dup, NM_001136218.1:c.*648_*650dup, NM_001136218.1:c.*645_*650dup, NM_001319665.2:c.*993_*1000del, NM_001319665.2:c.*994_*1000del, NM_001319665.2:c.*995_*1000del, NM_001319665.2:c.*996_*1000del, NM_001319665.2:c.*997_*1000del, NM_001319665.2:c.*998_*1000del, NM_001319665.2:c.*999_*1000del, NM_001319665.2:c.*1000del, NM_001319665.2:c.*1000dup, NM_001319665.2:c.*999_*1000dup, NM_001319665.2:c.*998_*1000dup, NM_001319665.2:c.*995_*1000dup, NM_001319665.1:c.*993_*1000del, NM_001319665.1:c.*994_*1000del, NM_001319665.1:c.*995_*1000del, NM_001319665.1:c.*996_*1000del, NM_001319665.1:c.*997_*1000del, NM_001319665.1:c.*998_*1000del, NM_001319665.1:c.*999_*1000del, NM_001319665.1:c.*1000del, NM_001319665.1:c.*1000dup, NM_001319665.1:c.*999_*1000dup, NM_001319665.1:c.*998_*1000dup, NM_001319665.1:c.*995_*1000dup, NM_001136217.2:c.*643_*650del, NM_001136217.2:c.*644_*650del, NM_001136217.2:c.*645_*650del, NM_001136217.2:c.*646_*650del, NM_001136217.2:c.*647_*650del, NM_001136217.2:c.*648_*650del, NM_001136217.2:c.*649_*650del, NM_001136217.2:c.*650del, NM_001136217.2:c.*650dup, NM_001136217.2:c.*649_*650dup, NM_001136217.2:c.*648_*650dup, NM_001136217.2:c.*645_*650dup, NM_001136217.1:c.*643_*650del, NM_001136217.1:c.*644_*650del, NM_001136217.1:c.*645_*650del, NM_001136217.1:c.*646_*650del, NM_001136217.1:c.*647_*650del, NM_001136217.1:c.*648_*650del, NM_001136217.1:c.*649_*650del, NM_001136217.1:c.*650del, NM_001136217.1:c.*650dup, NM_001136217.1:c.*649_*650dup, NM_001136217.1:c.*648_*650dup, NM_001136217.1:c.*645_*650dup, NR_135082.2:n.1618_1625del, NR_135082.2:n.1619_1625del, NR_135082.2:n.1620_1625del, NR_135082.2:n.1621_1625del, NR_135082.2:n.1622_1625del, NR_135082.2:n.1623_1625del, NR_135082.2:n.1624_1625del, NR_135082.2:n.1625del, NR_135082.2:n.1625dup, NR_135082.2:n.1624_1625dup, NR_135082.2:n.1623_1625dup, NR_135082.2:n.1620_1625dup, NR_135082.1:n.1654_1661del, NR_135082.1:n.1655_1661del, NR_135082.1:n.1656_1661del, NR_135082.1:n.1657_1661del, NR_135082.1:n.1658_1661del, NR_135082.1:n.1659_1661del, NR_135082.1:n.1660_1661del, NR_135082.1:n.1661del, NR_135082.1:n.1661dup, NR_135082.1:n.1660_1661dup, NR_135082.1:n.1659_1661dup, NR_135082.1:n.1656_1661dup, XM_005245919.1:c.*643_*650del, XM_005245919.1:c.*644_*650del, XM_005245919.1:c.*645_*650del, XM_005245919.1:c.*646_*650del, XM_005245919.1:c.*647_*650del, XM_005245919.1:c.*648_*650del, XM_005245919.1:c.*649_*650del, XM_005245919.1:c.*650del, XM_005245919.1:c.*650dup, XM_005245919.1:c.*649_*650dup, XM_005245919.1:c.*648_*650dup, XM_005245919.1:c.*645_*650dup

Select item 14915354113.

rs1491535411 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTATTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:15194918 (GRCh38)
1:15521415 (GRCh37)
Canonical SPDI:: NC_000001.11:15194918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.15194919_15194940T[26]ATTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.15521415_15521436T[26]ATTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14915225124.

rs1491522512 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:15206228 (GRCh38)
1:15532724 (GRCh37)
Canonical SPDI:: NC_000001.11:15206227:CA:
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01189/141 (ALFA)
-=0.00306/86 (TOMMO)
-=0.0064/41 (1000Genomes)
HGVS:: NC_000001.11:g.15206228_15206229del, NC_000001.10:g.15532724_15532725del

Select item 14915131565.

rs1491513156 has merged into rs3078883 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCCC>-,C,CC,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCC,CCCCCCCCCC [Show Flanks]
Chromosome:: 1:15211830 (GRCh38)
1:15538326 (GRCh37)
Canonical SPDI:: NC_000001.11:15211821:CCCCCCCCCCCCCCCC:CCCCCCCC,NC_000001.11:15211821:CCCCCCCCCCCCCCCC:CCCCCCCCC,NC_000001.11:15211821:CCCCCCCCCCCCCCCC:CCCCCCCCCC,NC_000001.11:15211821:CCCCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000001.11:15211821:CCCCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:15211821:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000001.11:15211821:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000001.11:15211821:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000001.11:15211821:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000001.11:15211821:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.0234/117 (1000Genomes)
HGVS:: NC_000001.11:g.15211830_15211837del, NC_000001.11:g.15211831_15211837del, NC_000001.11:g.15211832_15211837del, NC_000001.11:g.15211833_15211837del, NC_000001.11:g.15211834_15211837del, NC_000001.11:g.15211835_15211837del, NC_000001.11:g.15211836_15211837del, NC_000001.11:g.15211837del, NC_000001.11:g.15211837dup, NC_000001.11:g.15211836_15211837dup, NC_000001.10:g.15538326_15538333del, NC_000001.10:g.15538327_15538333del, NC_000001.10:g.15538328_15538333del, NC_000001.10:g.15538329_15538333del, NC_000001.10:g.15538330_15538333del, NC_000001.10:g.15538331_15538333del, NC_000001.10:g.15538332_15538333del, NC_000001.10:g.15538333del, NC_000001.10:g.15538333dup, NC_000001.10:g.15538332_15538333dup

Select item 14915025036.

rs1491502503 has merged into rs71000380 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:15206237 (GRCh38)
1:15532733 (GRCh37)
Canonical SPDI:: NC_000001.11:15206228:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:15206228:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:15206228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:15206228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:15206228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:15206228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:15206228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:15206228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:15206228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:15206228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:15206228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:15206228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.15206237_15206246del, NC_000001.11:g.15206238_15206246del, NC_000001.11:g.15206239_15206246del, NC_000001.11:g.15206240_15206246del, NC_000001.11:g.15206241_15206246del, NC_000001.11:g.15206242_15206246del, NC_000001.11:g.15206243_15206246del, NC_000001.11:g.15206244_15206246del, NC_000001.11:g.15206245_15206246del, NC_000001.11:g.15206246del, NC_000001.11:g.15206246dup, NC_000001.11:g.15206245_15206246dup, NC_000001.10:g.15532733_15532742del, NC_000001.10:g.15532734_15532742del, NC_000001.10:g.15532735_15532742del, NC_000001.10:g.15532736_15532742del, NC_000001.10:g.15532737_15532742del, NC_000001.10:g.15532738_15532742del, NC_000001.10:g.15532739_15532742del, NC_000001.10:g.15532740_15532742del, NC_000001.10:g.15532741_15532742del, NC_000001.10:g.15532742del, NC_000001.10:g.15532742dup, NC_000001.10:g.15532741_15532742dup

Select item 14914901327.

rs1491490132 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:15214007 (GRCh38)
1:15540504 (GRCh37)
Canonical SPDI:: NC_000001.11:15214007::C
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00025/3 (ALFA)
C=0.00063/35 (GnomAD)
HGVS:: NC_000001.11:g.15214007_15214008insC, NC_000001.10:g.15540503_15540504insC

Select item 14914771228.

rs1491477122 has merged into rs367871717 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:15214015 (GRCh38)
1:15540511 (GRCh37)
Canonical SPDI:: NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15214006:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000001.11:g.15214015_15214024del, NC_000001.11:g.15214022_15214024del, NC_000001.11:g.15214023_15214024del, NC_000001.11:g.15214024del, NC_000001.11:g.15214024dup, NC_000001.11:g.15214023_15214024dup, NC_000001.11:g.15214022_15214024dup, NC_000001.11:g.15214021_15214024dup, NC_000001.11:g.15214020_15214024dup, NC_000001.11:g.15214019_15214024dup, NC_000001.11:g.15214018_15214024dup, NC_000001.11:g.15214017_15214024dup, NC_000001.11:g.15214016_15214024dup, NC_000001.11:g.15214015_15214024dup, NC_000001.11:g.15214014_15214024dup, NC_000001.11:g.15214011_15214024dup, NC_000001.11:g.15214010_15214024dup, NC_000001.11:g.15214009_15214024dup, NC_000001.11:g.15214008_15214024dup, NC_000001.11:g.15214007_15214024dup, NC_000001.11:g.15214024_15214025insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.15214024_15214025insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.15214024_15214025insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.15214024_15214025insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.15540511_15540520del, NC_000001.10:g.15540518_15540520del, NC_000001.10:g.15540519_15540520del, NC_000001.10:g.15540520del, NC_000001.10:g.15540520dup, NC_000001.10:g.15540519_15540520dup, NC_000001.10:g.15540518_15540520dup, NC_000001.10:g.15540517_15540520dup, NC_000001.10:g.15540516_15540520dup, NC_000001.10:g.15540515_15540520dup, NC_000001.10:g.15540514_15540520dup, NC_000001.10:g.15540513_15540520dup, NC_000001.10:g.15540512_15540520dup, NC_000001.10:g.15540511_15540520dup, NC_000001.10:g.15540510_15540520dup, NC_000001.10:g.15540507_15540520dup, NC_000001.10:g.15540506_15540520dup, NC_000001.10:g.15540505_15540520dup, NC_000001.10:g.15540504_15540520dup, NC_000001.10:g.15540503_15540520dup, NC_000001.10:g.15540520_15540521insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.15540520_15540521insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.15540520_15540521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.15540520_15540521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914695429.

rs1491469542 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:15200407 (GRCh38)
1:15526903 (GRCh37)
Canonical SPDI:: NC_000001.11:15200406:CA:
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00038/10 (TOMMO)
HGVS:: NC_000001.11:g.15200407_15200408del, NC_000001.10:g.15526903_15526904del

Select item 149134861510.

rs1491348615 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:15172387 (GRCh38)
1:15498883 (GRCh37)
Canonical SPDI:: NC_000001.11:15172386:CA:
Gene:: TMEM51 (Varview), TMEM51-AS2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000001.11:g.15172387_15172388del, NC_000001.10:g.15498883_15498884del

Select item 149125340211.

rs1491253402 has merged into rs34718626 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:15172399 (GRCh38)
1:15498895 (GRCh37)
Canonical SPDI:: NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:15172387:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM51 (Varview), TMEM51-AS2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.15172399_15172408del, NC_000001.11:g.15172401_15172408del, NC_000001.11:g.15172403_15172408del, NC_000001.11:g.15172404_15172408del, NC_000001.11:g.15172405_15172408del, NC_000001.11:g.15172406_15172408del, NC_000001.11:g.15172407_15172408del, NC_000001.11:g.15172408del, NC_000001.11:g.15172408dup, NC_000001.11:g.15172407_15172408dup, NC_000001.11:g.15172406_15172408dup, NC_000001.11:g.15172405_15172408dup, NC_000001.11:g.15172403_15172408dup, NC_000001.11:g.15172402_15172408dup, NC_000001.11:g.15172400_15172408dup, NC_000001.10:g.15498895_15498904del, NC_000001.10:g.15498897_15498904del, NC_000001.10:g.15498899_15498904del, NC_000001.10:g.15498900_15498904del, NC_000001.10:g.15498901_15498904del, NC_000001.10:g.15498902_15498904del, NC_000001.10:g.15498903_15498904del, NC_000001.10:g.15498904del, NC_000001.10:g.15498904dup, NC_000001.10:g.15498903_15498904dup, NC_000001.10:g.15498902_15498904dup, NC_000001.10:g.15498901_15498904dup, NC_000001.10:g.15498899_15498904dup, NC_000001.10:g.15498898_15498904dup, NC_000001.10:g.15498896_15498904dup

Select item 149122667412.

rs1491226674 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:15211821 (GRCh38)
1:15538317 (GRCh37)
Canonical SPDI:: NC_000001.11:15211820:AC:
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01315/156 (ALFA)
-=0.0006/9 (TOMMO)
-=0.00484/8 (Korea1K)
-=0.00498/182 (GnomAD)
HGVS:: NC_000001.11:g.15211821_15211822del, NC_000001.10:g.15538317_15538318del

Select item 149121802613.

rs1491218026 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:15188291 (GRCh38)
1:15514787 (GRCh37)
Canonical SPDI:: NC_000001.11:15188290:CA:
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.15188291_15188292del, NC_000001.10:g.15514787_15514788del

Select item 149121712114.

rs1491217121 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:15214006 (GRCh38)
1:15540502 (GRCh37)
Canonical SPDI:: NC_000001.11:15214005:CT:
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000025/3 (GnomAD)
HGVS:: NC_000001.11:g.15214006_15214007del, NC_000001.10:g.15540502_15540503del

Select item 149120763815.

rs1491207638 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTTTTTTTTT [Show Flanks]
Chromosome:: 1:15192460 (GRCh38)
1:15518957 (GRCh37)
Canonical SPDI:: NC_000001.11:15192460:CTTTTTTTTT:CTTTTTTTTTTCTTTTTTTTT
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.15192470_15192471insTCTTTTTTTTT, NC_000001.10:g.15518966_15518967insTCTTTTTTTTT, NG_026912.3:g.756_765A[9]GAAAAAAAAAAG[1]

Select item 149114233316.

rs1491142333 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAAGA,AAAAGA,AAAGA,AAGA,AGA [Show Flanks]
Chromosome:: 1:15200431 (GRCh38)
1:15526928 (GRCh37)
Canonical SPDI:: NC_000001.11:15200431:A:AAAAAAGA,NC_000001.11:15200431:A:AAAAAGA,NC_000001.11:15200431:A:AAAAGA,NC_000001.11:15200431:A:AAAGA,NC_000001.11:15200431:A:AAGA
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGA=0./0 (ALFA)
AAAG=0.00014/4 (TOMMO)
HGVS:: NC_000001.11:g.15200432A[6]GA[1], NC_000001.11:g.15200432A[5]GA[1], NC_000001.11:g.15200432A[4]GA[1], NC_000001.11:g.15200432_15200433insAAGA, NC_000001.11:g.15200432_15200433insAGA, NC_000001.10:g.15526928A[6]GA[1], NC_000001.10:g.15526928A[5]GA[1], NC_000001.10:g.15526928A[4]GA[1], NC_000001.10:g.15526928_15526929insAAGA, NC_000001.10:g.15526928_15526929insAGA

Select item 149109358117.

rs1491093581 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:15188291 (GRCh38)
1:15514788 (GRCh37)
Canonical SPDI:: NC_000001.11:15188291:A:AA
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000043/6 (GnomAD)
A=0.000057/15 (TOPMED)
HGVS:: NC_000001.11:g.15188292dup, NC_000001.10:g.15514788dup

Select item 149105680218.

rs1491056802 has merged into rs35399200 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 1:15161514 (GRCh38)
1:15488010 (GRCh37)
Canonical SPDI:: NC_000001.11:15161511:AAAA:AA,NC_000001.11:15161511:AAAA:AAAAAA
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0.049292/634 (ALFA)
-=0.009259/2 (Vietnamese)
-=0.02893/53 (Korea1K)
AA=0.048031/805 (TOMMO)
-=0.113333/68 (NorthernSweden)
AA=0.123802/620 (1000Genomes)
-=0.125/5 (GENOME_DK)
-=0.133267/133 (GoNL)
-=0.140625/630 (Estonian)
-=0.151834/563 (TWINSUK)
-=0.159584/22270 (GnomAD)
-=0.162948/628 (ALSPAC)
HGVS:: NC_000001.11:g.15161514_15161515del, NC_000001.11:g.15161514_15161515dup, NC_000001.10:g.15488010_15488011del, NC_000001.10:g.15488010_15488011dup

Select item 149102383619.

rs1491023836 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:15164805 (GRCh38)
1:15491301 (GRCh37)
Canonical SPDI:: NC_000001.11:15164804:TC:
Gene:: TMEM51 (Varview), TMEM51-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.15164805_15164806del, NC_000001.10:g.15491301_15491302del

Select item 149101054020.

rs1491010540 has merged into rs869118960 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 1:15193575 (GRCh38)
1:15520071 (GRCh37)
Canonical SPDI:: NC_000001.11:15193573:TCT:T,NC_000001.11:15193573:TCT:TCTCT
Gene:: TMEM51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00152/18 (ALFA)
-=0.0028/184 (GnomAD)
HGVS:: NC_000001.11:g.15193575_15193576del, NC_000001.11:g.15193575_15193576dup, NC_000001.10:g.15520071_15520072del, NC_000001.10:g.15520071_15520072dup

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