SNP Links for Gene (Select 64746) - SNP

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Select item 14915735911.

rs1491573591 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:226178574 (GRCh38)
1:226366275 (GRCh37)
Canonical SPDI:: NC_000001.11:226178573:CA:
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000001.11:g.226178574_226178575del, NC_000001.10:g.226366275_226366276del, NG_028985.1:g.13148_13149del

Select item 14914793532.

rs1491479353 has merged into rs34313392 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:226176441 (GRCh38)
1:226364142 (GRCh37)
Canonical SPDI:: NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226176429:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.226176441_226176449del, NC_000001.11:g.226176444_226176449del, NC_000001.11:g.226176445_226176449del, NC_000001.11:g.226176447_226176449del, NC_000001.11:g.226176448_226176449del, NC_000001.11:g.226176449del, NC_000001.11:g.226176449dup, NC_000001.11:g.226176448_226176449dup, NC_000001.11:g.226176447_226176449dup, NC_000001.11:g.226176446_226176449dup, NC_000001.11:g.226176445_226176449dup, NC_000001.11:g.226176444_226176449dup, NC_000001.11:g.226176443_226176449dup, NC_000001.11:g.226176442_226176449dup, NC_000001.11:g.226176441_226176449dup, NC_000001.10:g.226364142_226364150del, NC_000001.10:g.226364145_226364150del, NC_000001.10:g.226364146_226364150del, NC_000001.10:g.226364148_226364150del, NC_000001.10:g.226364149_226364150del, NC_000001.10:g.226364150del, NC_000001.10:g.226364150dup, NC_000001.10:g.226364149_226364150dup, NC_000001.10:g.226364148_226364150dup, NC_000001.10:g.226364147_226364150dup, NC_000001.10:g.226364146_226364150dup, NC_000001.10:g.226364145_226364150dup, NC_000001.10:g.226364144_226364150dup, NC_000001.10:g.226364143_226364150dup, NC_000001.10:g.226364142_226364150dup, NG_028985.1:g.15285_15293del, NG_028985.1:g.15288_15293del, NG_028985.1:g.15289_15293del, NG_028985.1:g.15291_15293del, NG_028985.1:g.15292_15293del, NG_028985.1:g.15293del, NG_028985.1:g.15293dup, NG_028985.1:g.15292_15293dup, NG_028985.1:g.15291_15293dup, NG_028985.1:g.15290_15293dup, NG_028985.1:g.15289_15293dup, NG_028985.1:g.15288_15293dup, NG_028985.1:g.15287_15293dup, NG_028985.1:g.15286_15293dup, NG_028985.1:g.15285_15293dup

Select item 14914268813.

rs1491426881 has merged into rs1165905762 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:226164129 (GRCh38)
1:226351830 (GRCh37)
Canonical SPDI:: NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.226164129_226164143del, NC_000001.11:g.226164130_226164143del, NC_000001.11:g.226164131_226164143del, NC_000001.11:g.226164132_226164143del, NC_000001.11:g.226164133_226164143del, NC_000001.11:g.226164134_226164143del, NC_000001.11:g.226164135_226164143del, NC_000001.11:g.226164136_226164143del, NC_000001.11:g.226164137_226164143del, NC_000001.11:g.226164138_226164143del, NC_000001.11:g.226164139_226164143del, NC_000001.11:g.226164140_226164143del, NC_000001.11:g.226164141_226164143del, NC_000001.11:g.226164142_226164143del, NC_000001.11:g.226164143del, NC_000001.11:g.226164143dup, NC_000001.11:g.226164142_226164143dup, NC_000001.11:g.226164141_226164143dup, NC_000001.11:g.226164137_226164143dup, NC_000001.10:g.226351830_226351844del, NC_000001.10:g.226351831_226351844del, NC_000001.10:g.226351832_226351844del, NC_000001.10:g.226351833_226351844del, NC_000001.10:g.226351834_226351844del, NC_000001.10:g.226351835_226351844del, NC_000001.10:g.226351836_226351844del, NC_000001.10:g.226351837_226351844del, NC_000001.10:g.226351838_226351844del, NC_000001.10:g.226351839_226351844del, NC_000001.10:g.226351840_226351844del, NC_000001.10:g.226351841_226351844del, NC_000001.10:g.226351842_226351844del, NC_000001.10:g.226351843_226351844del, NC_000001.10:g.226351844del, NC_000001.10:g.226351844dup, NC_000001.10:g.226351843_226351844dup, NC_000001.10:g.226351842_226351844dup, NC_000001.10:g.226351838_226351844dup, NG_028985.1:g.27592_27606del, NG_028985.1:g.27593_27606del, NG_028985.1:g.27594_27606del, NG_028985.1:g.27595_27606del, NG_028985.1:g.27596_27606del, NG_028985.1:g.27597_27606del, NG_028985.1:g.27598_27606del, NG_028985.1:g.27599_27606del, NG_028985.1:g.27600_27606del, NG_028985.1:g.27601_27606del, NG_028985.1:g.27602_27606del, NG_028985.1:g.27603_27606del, NG_028985.1:g.27604_27606del, NG_028985.1:g.27605_27606del, NG_028985.1:g.27606del, NG_028985.1:g.27606dup, NG_028985.1:g.27605_27606dup, NG_028985.1:g.27604_27606dup, NG_028985.1:g.27600_27606dup

Select item 14914167954.

rs1491416795 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:226176429 (GRCh38)
1:226364130 (GRCh37)
Canonical SPDI:: NC_000001.11:226176428:CA:
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000001.11:g.226176429_226176430del, NC_000001.10:g.226364130_226364131del, NG_028985.1:g.15293_15294del

Select item 14914140275.

rs1491414027 has merged into rs1165905762 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:226164129 (GRCh38)
1:226351830 (GRCh37)
Canonical SPDI:: NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164116:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.226164129_226164143del, NC_000001.11:g.226164130_226164143del, NC_000001.11:g.226164131_226164143del, NC_000001.11:g.226164132_226164143del, NC_000001.11:g.226164133_226164143del, NC_000001.11:g.226164134_226164143del, NC_000001.11:g.226164135_226164143del, NC_000001.11:g.226164136_226164143del, NC_000001.11:g.226164137_226164143del, NC_000001.11:g.226164138_226164143del, NC_000001.11:g.226164139_226164143del, NC_000001.11:g.226164140_226164143del, NC_000001.11:g.226164141_226164143del, NC_000001.11:g.226164142_226164143del, NC_000001.11:g.226164143del, NC_000001.11:g.226164143dup, NC_000001.11:g.226164142_226164143dup, NC_000001.11:g.226164141_226164143dup, NC_000001.11:g.226164137_226164143dup, NC_000001.10:g.226351830_226351844del, NC_000001.10:g.226351831_226351844del, NC_000001.10:g.226351832_226351844del, NC_000001.10:g.226351833_226351844del, NC_000001.10:g.226351834_226351844del, NC_000001.10:g.226351835_226351844del, NC_000001.10:g.226351836_226351844del, NC_000001.10:g.226351837_226351844del, NC_000001.10:g.226351838_226351844del, NC_000001.10:g.226351839_226351844del, NC_000001.10:g.226351840_226351844del, NC_000001.10:g.226351841_226351844del, NC_000001.10:g.226351842_226351844del, NC_000001.10:g.226351843_226351844del, NC_000001.10:g.226351844del, NC_000001.10:g.226351844dup, NC_000001.10:g.226351843_226351844dup, NC_000001.10:g.226351842_226351844dup, NC_000001.10:g.226351838_226351844dup, NG_028985.1:g.27592_27606del, NG_028985.1:g.27593_27606del, NG_028985.1:g.27594_27606del, NG_028985.1:g.27595_27606del, NG_028985.1:g.27596_27606del, NG_028985.1:g.27597_27606del, NG_028985.1:g.27598_27606del, NG_028985.1:g.27599_27606del, NG_028985.1:g.27600_27606del, NG_028985.1:g.27601_27606del, NG_028985.1:g.27602_27606del, NG_028985.1:g.27603_27606del, NG_028985.1:g.27604_27606del, NG_028985.1:g.27605_27606del, NG_028985.1:g.27606del, NG_028985.1:g.27606dup, NG_028985.1:g.27605_27606dup, NG_028985.1:g.27604_27606dup, NG_028985.1:g.27600_27606dup

Select item 14913530336.

rs1491353033 has merged into rs1444848581 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:226152020 (GRCh38)
1:226339721 (GRCh37)
Canonical SPDI:: NC_000001.11:226152019:TTTTTTTT:TTTTTTT,NC_000001.11:226152019:TTTTTTTT:TTTTTTTTT
Gene:: ACBD3 (Varview), ACBD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000166/44 (TOPMED)
-=0.001134/19 (TOMMO)
-=0.002183/4 (Korea1K)
HGVS:: NC_000001.11:g.226152027del, NC_000001.11:g.226152027dup, NC_000001.10:g.226339728del, NC_000001.10:g.226339728dup, NG_028985.1:g.39703del, NG_028985.1:g.39703dup

Select item 14913346777.

rs1491334677 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:226164116 (GRCh38)
1:226351817 (GRCh37)
Canonical SPDI:: NC_000001.11:226164115:TA:
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.226164116_226164117del, NC_000001.10:g.226351817_226351818del, NG_028985.1:g.27606_27607del

Select item 14913304718.

rs1491330471 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:226164117 (GRCh38)
1:226351819 (GRCh37)
Canonical SPDI:: NC_000001.11:226164117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:226164117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT=0.0007/1 (GnomAD)
HGVS:: NC_000001.11:g.226164118_226164143A[39]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.226164118_226164143A[33]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.226351819_226351844A[39]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.226351819_226351844A[33]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_028985.1:g.27580_27605T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_028985.1:g.27580_27605T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14913175199.

rs1491317519 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:226169238 (GRCh38)
1:226356939 (GRCh37)
Canonical SPDI:: NC_000001.11:226169237:GT:
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.226169238_226169239del, NC_000001.10:g.226356939_226356940del, NG_028985.1:g.22484_22485del

Select item 149108335410.

rs1491083354 has merged into rs11448894 [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,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:226187656 (GRCh38)
1:226375357 (GRCh37)
Canonical SPDI:: NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226187644:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACBD3 (Varview), LOC101927247 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.226187656_226187667del, NC_000001.11:g.226187657_226187667del, NC_000001.11:g.226187658_226187667del, NC_000001.11:g.226187659_226187667del, NC_000001.11:g.226187660_226187667del, NC_000001.11:g.226187661_226187667del, NC_000001.11:g.226187662_226187667del, NC_000001.11:g.226187663_226187667del, NC_000001.11:g.226187664_226187667del, NC_000001.11:g.226187665_226187667del, NC_000001.11:g.226187666_226187667del, NC_000001.11:g.226187667del, NC_000001.11:g.226187667dup, NC_000001.11:g.226187666_226187667dup, NC_000001.11:g.226187665_226187667dup, NC_000001.11:g.226187664_226187667dup, NC_000001.11:g.226187663_226187667dup, NC_000001.11:g.226187662_226187667dup, NC_000001.11:g.226187661_226187667dup, NC_000001.11:g.226187660_226187667dup, NC_000001.11:g.226187659_226187667dup, NC_000001.11:g.226187658_226187667dup, NC_000001.11:g.226187657_226187667dup, NC_000001.11:g.226187656_226187667dup, NC_000001.11:g.226187655_226187667dup, NC_000001.11:g.226187654_226187667dup, NC_000001.11:g.226187653_226187667dup, NC_000001.11:g.226187645_226187667T[38]AATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.226187652_226187667dup, NC_000001.11:g.226187651_226187667dup, NC_000001.11:g.226187650_226187667dup, NC_000001.11:g.226187649_226187667dup, NC_000001.11:g.226187648_226187667dup, NC_000001.11:g.226187647_226187667dup, NC_000001.11:g.226187645_226187667dup, NC_000001.11:g.226187667_226187668insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.226187667_226187668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.226187667_226187668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.226187667_226187668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.226187667_226187668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.226187667_226187668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.226187667_226187668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.226187667_226187668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.226187667_226187668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.226375357_226375368del, NC_000001.10:g.226375358_226375368del, NC_000001.10:g.226375359_226375368del, NC_000001.10:g.226375360_226375368del, NC_000001.10:g.226375361_226375368del, NC_000001.10:g.226375362_226375368del, NC_000001.10:g.226375363_226375368del, NC_000001.10:g.226375364_226375368del, NC_000001.10:g.226375365_226375368del, NC_000001.10:g.226375366_226375368del, NC_000001.10:g.226375367_226375368del, NC_000001.10:g.226375368del, NC_000001.10:g.226375368dup, NC_000001.10:g.226375367_226375368dup, NC_000001.10:g.226375366_226375368dup, NC_000001.10:g.226375365_226375368dup, NC_000001.10:g.226375364_226375368dup, NC_000001.10:g.226375363_226375368dup, NC_000001.10:g.226375362_226375368dup, NC_000001.10:g.226375361_226375368dup, NC_000001.10:g.226375360_226375368dup, NC_000001.10:g.226375359_226375368dup, NC_000001.10:g.226375358_226375368dup, NC_000001.10:g.226375357_226375368dup, NC_000001.10:g.226375356_226375368dup, NC_000001.10:g.226375355_226375368dup, NC_000001.10:g.226375354_226375368dup, NC_000001.10:g.226375346_226375368T[38]AATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.226375353_226375368dup, NC_000001.10:g.226375352_226375368dup, NC_000001.10:g.226375351_226375368dup, NC_000001.10:g.226375350_226375368dup, NC_000001.10:g.226375349_226375368dup, NC_000001.10:g.226375348_226375368dup, NC_000001.10:g.226375346_226375368dup, NC_000001.10:g.226375368_226375369insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.226375368_226375369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.226375368_226375369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.226375368_226375369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.226375368_226375369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.226375368_226375369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.226375368_226375369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.226375368_226375369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.226375368_226375369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028985.1:g.4067_4078del, NG_028985.1:g.4068_4078del, NG_028985.1:g.4069_4078del, NG_028985.1:g.4070_4078del, NG_028985.1:g.4071_4078del, NG_028985.1:g.4072_4078del, NG_028985.1:g.4073_4078del, NG_028985.1:g.4074_4078del, NG_028985.1:g.4075_4078del, NG_028985.1:g.4076_4078del, NG_028985.1:g.4077_4078del, NG_028985.1:g.4078del, NG_028985.1:g.4078dup, NG_028985.1:g.4077_4078dup, NG_028985.1:g.4076_4078dup, NG_028985.1:g.4075_4078dup, NG_028985.1:g.4074_4078dup, NG_028985.1:g.4073_4078dup, NG_028985.1:g.4072_4078dup, NG_028985.1:g.4071_4078dup, NG_028985.1:g.4070_4078dup, NG_028985.1:g.4069_4078dup, NG_028985.1:g.4068_4078dup, NG_028985.1:g.4067_4078dup, NG_028985.1:g.4066_4078dup, NG_028985.1:g.4065_4078dup, NG_028985.1:g.4064_4078dup, NG_028985.1:g.4056_4078A[25]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_028985.1:g.4063_4078dup, NG_028985.1:g.4062_4078dup, NG_028985.1:g.4061_4078dup, NG_028985.1:g.4060_4078dup, NG_028985.1:g.4059_4078dup, NG_028985.1:g.4058_4078dup, NG_028985.1:g.4056_4078dup, NG_028985.1:g.4078_4079insAAAAAAAAAAAAAAAAAAAAAAAA, NG_028985.1:g.4078_4079insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_028985.1:g.4078_4079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_028985.1:g.4078_4079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_028985.1:g.4078_4079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_028985.1:g.4078_4079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_028985.1:g.4078_4079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_028985.1:g.4078_4079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_028985.1:g.4078_4079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149107996211.

rs1491079962 has merged into rs34857781 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 1:226171162 (GRCh38)
1:226358863 (GRCh37)
Canonical SPDI:: NC_000001.11:226171151:TTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:226171151:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:226171151:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:226171151:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.394/1973 (1000Genomes)
T=0.4214/252 (NorthernSweden)
T=0.4318/1664 (ALSPAC)
T=0.4431/1643 (TWINSUK)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000001.11:g.226171162_226171163del, NC_000001.11:g.226171163del, NC_000001.11:g.226171163dup, NC_000001.11:g.226171162_226171163dup, NC_000001.10:g.226358863_226358864del, NC_000001.10:g.226358864del, NC_000001.10:g.226358864dup, NC_000001.10:g.226358863_226358864dup, NG_028985.1:g.20570_20571del, NG_028985.1:g.20571del, NG_028985.1:g.20571dup, NG_028985.1:g.20570_20571dup

Select item 149104126612.

rs1491041266 has merged into rs145462202 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:226173763 (GRCh38)
1:226361464 (GRCh37)
Canonical SPDI:: NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:226173757:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.4605/2306 (1000Genomes)
HGVS:: NC_000001.11:g.226173763_226173778del, NC_000001.11:g.226173764_226173778del, NC_000001.11:g.226173765_226173778del, NC_000001.11:g.226173766_226173778del, NC_000001.11:g.226173767_226173778del, NC_000001.11:g.226173768_226173778del, NC_000001.11:g.226173769_226173778del, NC_000001.11:g.226173770_226173778del, NC_000001.11:g.226173771_226173778del, NC_000001.11:g.226173772_226173778del, NC_000001.11:g.226173773_226173778del, NC_000001.11:g.226173774_226173778del, NC_000001.11:g.226173775_226173778del, NC_000001.11:g.226173776_226173778del, NC_000001.11:g.226173777_226173778del, NC_000001.11:g.226173778del, NC_000001.11:g.226173778dup, NC_000001.11:g.226173777_226173778dup, NC_000001.11:g.226173776_226173778dup, NC_000001.11:g.226173775_226173778dup, NC_000001.11:g.226173774_226173778dup, NC_000001.11:g.226173773_226173778dup, NC_000001.11:g.226173772_226173778dup, NC_000001.11:g.226173771_226173778dup, NC_000001.11:g.226173770_226173778dup, NC_000001.11:g.226173769_226173778dup, NC_000001.11:g.226173768_226173778dup, NC_000001.11:g.226173766_226173778dup, NC_000001.11:g.226173765_226173778dup, NC_000001.11:g.226173764_226173778dup, NC_000001.11:g.226173763_226173778dup, NC_000001.11:g.226173762_226173778dup, NC_000001.11:g.226173760_226173778dup, NC_000001.11:g.226173759_226173778dup, NC_000001.11:g.226173758_226173778dup, NC_000001.11:g.226173778_226173779insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.226361464_226361479del, NC_000001.10:g.226361465_226361479del, NC_000001.10:g.226361466_226361479del, NC_000001.10:g.226361467_226361479del, NC_000001.10:g.226361468_226361479del, NC_000001.10:g.226361469_226361479del, NC_000001.10:g.226361470_226361479del, NC_000001.10:g.226361471_226361479del, NC_000001.10:g.226361472_226361479del, NC_000001.10:g.226361473_226361479del, NC_000001.10:g.226361474_226361479del, NC_000001.10:g.226361475_226361479del, NC_000001.10:g.226361476_226361479del, NC_000001.10:g.226361477_226361479del, NC_000001.10:g.226361478_226361479del, NC_000001.10:g.226361479del, NC_000001.10:g.226361479dup, NC_000001.10:g.226361478_226361479dup, NC_000001.10:g.226361477_226361479dup, NC_000001.10:g.226361476_226361479dup, NC_000001.10:g.226361475_226361479dup, NC_000001.10:g.226361474_226361479dup, NC_000001.10:g.226361473_226361479dup, NC_000001.10:g.226361472_226361479dup, NC_000001.10:g.226361471_226361479dup, NC_000001.10:g.226361470_226361479dup, NC_000001.10:g.226361469_226361479dup, NC_000001.10:g.226361467_226361479dup, NC_000001.10:g.226361466_226361479dup, NC_000001.10:g.226361465_226361479dup, NC_000001.10:g.226361464_226361479dup, NC_000001.10:g.226361463_226361479dup, NC_000001.10:g.226361461_226361479dup, NC_000001.10:g.226361460_226361479dup, NC_000001.10:g.226361459_226361479dup, NC_000001.10:g.226361479_226361480insTTTTTTTTTTTTTTTTTTTTTT, NG_028985.1:g.17950_17965del, NG_028985.1:g.17951_17965del, NG_028985.1:g.17952_17965del, NG_028985.1:g.17953_17965del, NG_028985.1:g.17954_17965del, NG_028985.1:g.17955_17965del, NG_028985.1:g.17956_17965del, NG_028985.1:g.17957_17965del, NG_028985.1:g.17958_17965del, NG_028985.1:g.17959_17965del, NG_028985.1:g.17960_17965del, NG_028985.1:g.17961_17965del, NG_028985.1:g.17962_17965del, NG_028985.1:g.17963_17965del, NG_028985.1:g.17964_17965del, NG_028985.1:g.17965del, NG_028985.1:g.17965dup, NG_028985.1:g.17964_17965dup, NG_028985.1:g.17963_17965dup, NG_028985.1:g.17962_17965dup, NG_028985.1:g.17961_17965dup, NG_028985.1:g.17960_17965dup, NG_028985.1:g.17959_17965dup, NG_028985.1:g.17958_17965dup, NG_028985.1:g.17957_17965dup, NG_028985.1:g.17956_17965dup, NG_028985.1:g.17955_17965dup, NG_028985.1:g.17953_17965dup, NG_028985.1:g.17952_17965dup, NG_028985.1:g.17951_17965dup, NG_028985.1:g.17950_17965dup, NG_028985.1:g.17949_17965dup, NG_028985.1:g.17947_17965dup, NG_028985.1:g.17946_17965dup, NG_028985.1:g.17945_17965dup, NG_028985.1:g.17965_17966insAAAAAAAAAAAAAAAAAAAAAA

Select item 149103797213.

rs1491037972 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:226177166 (GRCh38)
1:226364868 (GRCh37)
Canonical SPDI:: NC_000001.11:226177166::C
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.226177166_226177167insC, NC_000001.10:g.226364867_226364868insC, NG_028985.1:g.14556_14557insG

Select item 149100101114.

rs1491001011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:226147170 (GRCh38)
1:226334871 (GRCh37)
Canonical SPDI:: NC_000001.11:226147169:G:A
Gene:: ACBD3 (Varview), ACBD3-AS1 (Varview), LOC124904586 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.226147170G>A, NC_000001.10:g.226334871G>A, NG_028985.1:g.44553C>T

Select item 149099629915.

rs1490996299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:226178532 (GRCh38)
1:226366233 (GRCh37)
Canonical SPDI:: NC_000001.11:226178531:G:A
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00042/7 (TOMMO)
HGVS:: NC_000001.11:g.226178532G>A, NC_000001.10:g.226366233G>A, NG_028985.1:g.13191C>T

Select item 149095221116.

rs1490952211 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:226163636 (GRCh38)
1:226351337 (GRCh37)
Canonical SPDI:: NC_000001.11:226163635:T:C
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.226163636T>C, NC_000001.10:g.226351337T>C, NG_028985.1:g.28087A>G

Select item 149087602617.

rs1490876026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:226147113 (GRCh38)
1:226334814 (GRCh37)
Canonical SPDI:: NC_000001.11:226147112:A:G
Gene:: ACBD3 (Varview), ACBD3-AS1 (Varview), LOC124904586 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.226147113A>G, NC_000001.10:g.226334814A>G, NG_028985.1:g.44610T>C

Select item 149079118318.

rs1490791183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:226155176 (GRCh38)
1:226342877 (GRCh37)
Canonical SPDI:: NC_000001.11:226155175:G:C
Gene:: ACBD3 (Varview), ACBD3-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_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_000001.11:g.226155176G>C, NC_000001.10:g.226342877G>C, NG_028985.1:g.36547C>G

Select item 149077303619.

rs1490773036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:226169984 (GRCh38)
1:226357685 (GRCh37)
Canonical SPDI:: NC_000001.11:226169983:G:A
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.226169984G>A, NC_000001.10:g.226357685G>A, NG_028985.1:g.21739C>T

Select item 149076645520.

rs1490766455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:226156157 (GRCh38)
1:226343858 (GRCh37)
Canonical SPDI:: NC_000001.11:226156156:A:C
Gene:: ACBD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.226156157A>C, NC_000001.10:g.226343858A>C, NG_028985.1:g.35566T>G

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