SNP Links for Gene (Select 22868) - SNP

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Select item 14915524131.

rs1491552413 has merged into rs10655467 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 2:206794135 (GRCh38)
2:207658859 (GRCh37)
Canonical SPDI:: NC_000002.12:206794123:ACACACACACACACA:ACACACACACA,NC_000002.12:206794123:ACACACACACACACA:ACACACACACACA,NC_000002.12:206794123:ACACACACACACACA:ACACACACACACACACA,NC_000002.12:206794123:ACACACACACACACA:ACACACACACACACACACA,NC_000002.12:206794123:ACACACACACACACA:ACACACACACACACACACACA
Gene:: FASTKD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
ACACAC=0.000023/6 (TOPMED)
-=0.002051/9 (1000Genomes)
AC=0.045548/763 (TOMMO)
AC=0.053493/98 (Korea1K)
AC=0.055556/12 (Vietnamese)
AC=0.079158/79 (GoNL)
AC=0.081667/49 (NorthernSweden)
AC=0.1/4 (GENOME_DK)
HGVS:: NC_000002.12:g.206794125CA[5], NC_000002.12:g.206794125CA[6], NC_000002.12:g.206794125CA[8], NC_000002.12:g.206794125CA[9], NC_000002.12:g.206794125CA[10], NC_000002.11:g.207658849CA[5], NC_000002.11:g.207658849CA[6], NC_000002.11:g.207658849CA[8], NC_000002.11:g.207658849CA[9], NC_000002.11:g.207658849CA[10], NG_008984.1:g.33738CA[5], NG_008984.1:g.33738CA[6], NG_008984.1:g.33738CA[8], NG_008984.1:g.33738CA[9], NG_008984.1:g.33738CA[10], NM_014929.4:c.*2323CA[5], NM_014929.4:c.*2323CA[6], NM_014929.4:c.*2323CA[8], NM_014929.4:c.*2323CA[9], NM_014929.4:c.*2323CA[10], NM_014929.3:c.*2323CA[5], NM_014929.3:c.*2323CA[6], NM_014929.3:c.*2323CA[8], NM_014929.3:c.*2323CA[9], NM_014929.3:c.*2323CA[10], NM_001136194.2:c.*2323CA[5], NM_001136194.2:c.*2323CA[6], NM_001136194.2:c.*2323CA[8], NM_001136194.2:c.*2323CA[9], NM_001136194.2:c.*2323CA[10], NM_001136194.1:c.*2323CA[5], NM_001136194.1:c.*2323CA[6], NM_001136194.1:c.*2323CA[8], NM_001136194.1:c.*2323CA[9], NM_001136194.1:c.*2323CA[10], NM_001136193.2:c.*2323CA[5], NM_001136193.2:c.*2323CA[6], NM_001136193.2:c.*2323CA[8], NM_001136193.2:c.*2323CA[9], NM_001136193.2:c.*2323CA[10], NM_001136193.1:c.*2323CA[5], NM_001136193.1:c.*2323CA[6], NM_001136193.1:c.*2323CA[8], NM_001136193.1:c.*2323CA[9], NM_001136193.1:c.*2323CA[10]

Select item 14915285432.

rs1491528543 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:206861652 (GRCh38)
2:207726376 (GRCh37)
Canonical SPDI:: NC_000002.12:206861651:CA:
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000002.12:g.206861652_206861653del, NC_000002.11:g.207726376_207726377del

Select item 14914211613.

rs1491421161 has merged into rs55649489 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:206798676 (GRCh38)
2:207663400 (GRCh37)
Canonical SPDI:: NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:206798659:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.1905/734 (ALSPAC)
GTGTGTGTGT=0.488/2444 (1000Genomes)
HGVS:: NC_000002.12:g.206798660GT[8], NC_000002.12:g.206798660GT[10], NC_000002.12:g.206798660GT[11], NC_000002.12:g.206798660GT[12], NC_000002.12:g.206798660GT[13], NC_000002.12:g.206798660GT[14], NC_000002.12:g.206798660GT[15], NC_000002.12:g.206798660GT[16], NC_000002.12:g.206798660GT[17], NC_000002.12:g.206798660GT[18], NC_000002.12:g.206798660GT[19], NC_000002.12:g.206798660GT[20], NC_000002.12:g.206798660GT[21], NC_000002.12:g.206798660GT[22], NC_000002.12:g.206798660GT[23], NC_000002.12:g.206798660GT[24], NC_000002.12:g.206798660GT[26], NC_000002.12:g.206798660GT[27], NC_000002.12:g.206798660GT[28], NC_000002.12:g.206798660GT[29], NC_000002.12:g.206798660GT[30], NC_000002.12:g.206798660GT[31], NC_000002.12:g.206798660GT[32], NC_000002.11:g.207663384GT[8], NC_000002.11:g.207663384GT[10], NC_000002.11:g.207663384GT[11], NC_000002.11:g.207663384GT[12], NC_000002.11:g.207663384GT[13], NC_000002.11:g.207663384GT[14], NC_000002.11:g.207663384GT[15], NC_000002.11:g.207663384GT[16], NC_000002.11:g.207663384GT[17], NC_000002.11:g.207663384GT[18], NC_000002.11:g.207663384GT[19], NC_000002.11:g.207663384GT[20], NC_000002.11:g.207663384GT[21], NC_000002.11:g.207663384GT[22], NC_000002.11:g.207663384GT[23], NC_000002.11:g.207663384GT[24], NC_000002.11:g.207663384GT[26], NC_000002.11:g.207663384GT[27], NC_000002.11:g.207663384GT[28], NC_000002.11:g.207663384GT[29], NC_000002.11:g.207663384GT[30], NC_000002.11:g.207663384GT[31], NC_000002.11:g.207663384GT[32]

Select item 14913965444.

rs1491396544 has merged into rs570846648 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 2:206823574 (GRCh38)
2:207688298 (GRCh37)
Canonical SPDI:: NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:206823561:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATAT=0./0 (ALFA)
-=0.46585/2333 (1000Genomes)
HGVS:: NC_000002.12:g.206823562AT[6], NC_000002.12:g.206823562AT[7], NC_000002.12:g.206823562AT[8], NC_000002.12:g.206823562AT[9], NC_000002.12:g.206823562AT[10], NC_000002.12:g.206823562AT[11], NC_000002.12:g.206823562AT[12], NC_000002.12:g.206823562AT[13], NC_000002.12:g.206823562AT[14], NC_000002.12:g.206823562AT[16], NC_000002.12:g.206823562AT[17], NC_000002.12:g.206823562AT[18], NC_000002.12:g.206823562AT[19], NC_000002.12:g.206823562AT[20], NC_000002.12:g.206823562AT[21], NC_000002.12:g.206823562AT[22], NC_000002.12:g.206823562AT[23], NC_000002.12:g.206823562AT[24], NC_000002.12:g.206823562AT[25], NC_000002.12:g.206823562AT[26], NC_000002.12:g.206823562AT[27], NC_000002.11:g.207688286AT[6], NC_000002.11:g.207688286AT[7], NC_000002.11:g.207688286AT[8], NC_000002.11:g.207688286AT[9], NC_000002.11:g.207688286AT[10], NC_000002.11:g.207688286AT[11], NC_000002.11:g.207688286AT[12], NC_000002.11:g.207688286AT[13], NC_000002.11:g.207688286AT[14], NC_000002.11:g.207688286AT[16], NC_000002.11:g.207688286AT[17], NC_000002.11:g.207688286AT[18], NC_000002.11:g.207688286AT[19], NC_000002.11:g.207688286AT[20], NC_000002.11:g.207688286AT[21], NC_000002.11:g.207688286AT[22], NC_000002.11:g.207688286AT[23], NC_000002.11:g.207688286AT[24], NC_000002.11:g.207688286AT[25], NC_000002.11:g.207688286AT[26], NC_000002.11:g.207688286AT[27]

Select item 14913749035.

rs1491374903 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:206787239 (GRCh38)
2:207651964 (GRCh37)
Canonical SPDI:: NC_000002.12:206787239:A:AA
Gene:: FASTKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.206787240dup, NC_000002.11:g.207651964dup, NG_008984.1:g.26853dup

Select item 14913615586.

rs1491361558 has merged into rs1473068258 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:206826886 (GRCh38)
2:207691610 (GRCh37)
Canonical SPDI:: NC_000002.12:206826884:TAT:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000035/4 (GnomAD)
HGVS:: NC_000002.12:g.206826886_206826887del, NC_000002.11:g.207691610_207691611del

Select item 14912877837.

rs1491287783 has merged into rs146695582 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:206832956 (GRCh38)
2:207697680 (GRCh37)
Canonical SPDI:: NC_000002.12:206832954:ACA:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000319/5 (TOMMO)
HGVS:: NC_000002.12:g.206832956_206832957del, NC_000002.11:g.207697680_207697681del

Select item 14912166358.

rs1491216635 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA [Show Flanks]
Chromosome:: 2:206823591 (GRCh38)
2:207688316 (GRCh37)
Canonical SPDI:: NC_000002.12:206823591::A,NC_000002.12:206823591::ATA,NC_000002.12:206823591::ATATA,NC_000002.12:206823591::ATATATA,NC_000002.12:206823591::ATATATATA,NC_000002.12:206823591::ATATATATATA,NC_000002.12:206823591::ATATATATATATA,NC_000002.12:206823591::ATATATATATATATA,NC_000002.12:206823591::ATATATATATATATATA,NC_000002.12:206823591::ATATATATATATATATATA,NC_000002.12:206823591::ATATATATATATATATATATA
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.03918/21 (NorthernSweden)
HGVS:: NC_000002.12:g.206823591_206823592insA, NC_000002.12:g.206823591_206823592insATA, NC_000002.12:g.206823591_206823592insATATA, NC_000002.12:g.206823591_206823592insATATATA, NC_000002.12:g.206823591_206823592insATATATATA, NC_000002.12:g.206823591_206823592insATATATATATA, NC_000002.12:g.206823591_206823592insATATATATATATA, NC_000002.12:g.206823591_206823592insATATATATATATATA, NC_000002.12:g.206823591_206823592insATATATATATATATATA, NC_000002.12:g.206823591_206823592insATATATATATATATATATA, NC_000002.12:g.206823591_206823592insATATATATATATATATATATA, NC_000002.11:g.207688315_207688316insA, NC_000002.11:g.207688315_207688316insATA, NC_000002.11:g.207688315_207688316insATATA, NC_000002.11:g.207688315_207688316insATATATA, NC_000002.11:g.207688315_207688316insATATATATA, NC_000002.11:g.207688315_207688316insATATATATATA, NC_000002.11:g.207688315_207688316insATATATATATATA, NC_000002.11:g.207688315_207688316insATATATATATATATA, NC_000002.11:g.207688315_207688316insATATATATATATATATA, NC_000002.11:g.207688315_207688316insATATATATATATATATATA, NC_000002.11:g.207688315_207688316insATATATATATATATATATATA

Select item 14912082269.

rs1491208226 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:206798659 (GRCh38)
2:207663383 (GRCh37)
Canonical SPDI:: NC_000002.12:206798658:AG:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.004541/74 (ALFA)
-=0.008736/884 (GnomAD)
-=0.034912/584 (TOMMO)
HGVS:: NC_000002.12:g.206798659_206798660del, NC_000002.11:g.207663383_207663384del

Select item 149118518510.

rs1491185185 has merged into rs11455514 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:206826896 (GRCh38)
2:207691620 (GRCh37)
Canonical SPDI:: NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:206826886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.206826896_206826906del, NC_000002.12:g.206826899_206826906del, NC_000002.12:g.206826900_206826906del, NC_000002.12:g.206826901_206826906del, NC_000002.12:g.206826902_206826906del, NC_000002.12:g.206826903_206826906del, NC_000002.12:g.206826904_206826906del, NC_000002.12:g.206826905_206826906del, NC_000002.12:g.206826906del, NC_000002.12:g.206826906dup, NC_000002.12:g.206826905_206826906dup, NC_000002.12:g.206826904_206826906dup, NC_000002.12:g.206826903_206826906dup, NC_000002.12:g.206826902_206826906dup, NC_000002.12:g.206826901_206826906dup, NC_000002.12:g.206826900_206826906dup, NC_000002.12:g.206826899_206826906dup, NC_000002.12:g.206826898_206826906dup, NC_000002.12:g.206826897_206826906dup, NC_000002.12:g.206826896_206826906dup, NC_000002.11:g.207691620_207691630del, NC_000002.11:g.207691623_207691630del, NC_000002.11:g.207691624_207691630del, NC_000002.11:g.207691625_207691630del, NC_000002.11:g.207691626_207691630del, NC_000002.11:g.207691627_207691630del, NC_000002.11:g.207691628_207691630del, NC_000002.11:g.207691629_207691630del, NC_000002.11:g.207691630del, NC_000002.11:g.207691630dup, NC_000002.11:g.207691629_207691630dup, NC_000002.11:g.207691628_207691630dup, NC_000002.11:g.207691627_207691630dup, NC_000002.11:g.207691626_207691630dup, NC_000002.11:g.207691625_207691630dup, NC_000002.11:g.207691624_207691630dup, NC_000002.11:g.207691623_207691630dup, NC_000002.11:g.207691622_207691630dup, NC_000002.11:g.207691621_207691630dup, NC_000002.11:g.207691620_207691630dup

Select item 149118309411.

rs1491183094 has merged into rs71410899 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:206861662 (GRCh38)
2:207726386 (GRCh37)
Canonical SPDI:: NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206861652:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.206861662_206861669del, NC_000002.12:g.206861663_206861669del, NC_000002.12:g.206861664_206861669del, NC_000002.12:g.206861665_206861669del, NC_000002.12:g.206861666_206861669del, NC_000002.12:g.206861667_206861669del, NC_000002.12:g.206861668_206861669del, NC_000002.12:g.206861669del, NC_000002.12:g.206861669dup, NC_000002.12:g.206861668_206861669dup, NC_000002.12:g.206861667_206861669dup, NC_000002.12:g.206861666_206861669dup, NC_000002.12:g.206861665_206861669dup, NC_000002.12:g.206861664_206861669dup, NC_000002.12:g.206861663_206861669dup, NC_000002.12:g.206861662_206861669dup, NC_000002.12:g.206861661_206861669dup, NC_000002.12:g.206861660_206861669dup, NC_000002.12:g.206861659_206861669dup, NC_000002.12:g.206861658_206861669dup, NC_000002.12:g.206861657_206861669dup, NC_000002.12:g.206861656_206861669dup, NC_000002.12:g.206861655_206861669dup, NC_000002.12:g.206861654_206861669dup, NC_000002.12:g.206861653_206861669dup, NC_000002.12:g.206861669_206861670insAAAAAAAAAAAAAAAAAA, NC_000002.12:g.206861669_206861670insAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.206861669_206861670insAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.206861669_206861670insAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.206861669_206861670insAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.206861669_206861670insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.206861669_206861670insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.206861669_206861670insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.206861669_206861670insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.206861669_206861670insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.206861669_206861670insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.206861653_206861669A[29]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.207726386_207726393del, NC_000002.11:g.207726387_207726393del, NC_000002.11:g.207726388_207726393del, NC_000002.11:g.207726389_207726393del, NC_000002.11:g.207726390_207726393del, NC_000002.11:g.207726391_207726393del, NC_000002.11:g.207726392_207726393del, NC_000002.11:g.207726393del, NC_000002.11:g.207726393dup, NC_000002.11:g.207726392_207726393dup, NC_000002.11:g.207726391_207726393dup, NC_000002.11:g.207726390_207726393dup, NC_000002.11:g.207726389_207726393dup, NC_000002.11:g.207726388_207726393dup, NC_000002.11:g.207726387_207726393dup, NC_000002.11:g.207726386_207726393dup, NC_000002.11:g.207726385_207726393dup, NC_000002.11:g.207726384_207726393dup, NC_000002.11:g.207726383_207726393dup, NC_000002.11:g.207726382_207726393dup, NC_000002.11:g.207726381_207726393dup, NC_000002.11:g.207726380_207726393dup, NC_000002.11:g.207726379_207726393dup, NC_000002.11:g.207726378_207726393dup, NC_000002.11:g.207726377_207726393dup, NC_000002.11:g.207726393_207726394insAAAAAAAAAAAAAAAAAA, NC_000002.11:g.207726393_207726394insAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.207726393_207726394insAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.207726393_207726394insAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.207726393_207726394insAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.207726393_207726394insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.207726393_207726394insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.207726393_207726394insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.207726393_207726394insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.207726393_207726394insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.207726393_207726394insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.207726377_207726393A[29]CAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149117305112.

rs1491173051 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:206823561 (GRCh38)
2:207688285 (GRCh37)
Canonical SPDI:: NC_000002.12:206823560:CA:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.206823561_206823562del, NC_000002.11:g.207688285_207688286del

Select item 149116412913.

rs1491164129 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:206787240 (GRCh38)
2:207651964 (GRCh37)
Canonical SPDI:: NC_000002.12:206787238:TAT:T
Gene:: FASTKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.206787240_206787241del, NC_000002.11:g.207651964_207651965del, NG_008984.1:g.26853_26854del

Select item 149112053114.

rs1491120531 has merged into rs60933510 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:206766270 (GRCh38)
2:207630994 (GRCh37)
Canonical SPDI:: NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:206766259:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FASTKD2 (Varview), MDH1B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.206766270_206766285del, NC_000002.12:g.206766271_206766285del, NC_000002.12:g.206766272_206766285del, NC_000002.12:g.206766273_206766285del, NC_000002.12:g.206766274_206766285del, NC_000002.12:g.206766275_206766285del, NC_000002.12:g.206766276_206766285del, NC_000002.12:g.206766277_206766285del, NC_000002.12:g.206766278_206766285del, NC_000002.12:g.206766279_206766285del, NC_000002.12:g.206766280_206766285del, NC_000002.12:g.206766281_206766285del, NC_000002.12:g.206766282_206766285del, NC_000002.12:g.206766283_206766285del, NC_000002.12:g.206766284_206766285del, NC_000002.12:g.206766285del, NC_000002.12:g.206766285dup, NC_000002.12:g.206766284_206766285dup, NC_000002.12:g.206766283_206766285dup, NC_000002.12:g.206766282_206766285dup, NC_000002.12:g.206766281_206766285dup, NC_000002.12:g.206766280_206766285dup, NC_000002.12:g.206766279_206766285dup, NC_000002.12:g.206766277_206766285dup, NC_000002.12:g.206766285_206766286insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.206766285_206766286insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.207630994_207631009del, NC_000002.11:g.207630995_207631009del, NC_000002.11:g.207630996_207631009del, NC_000002.11:g.207630997_207631009del, NC_000002.11:g.207630998_207631009del, NC_000002.11:g.207630999_207631009del, NC_000002.11:g.207631000_207631009del, NC_000002.11:g.207631001_207631009del, NC_000002.11:g.207631002_207631009del, NC_000002.11:g.207631003_207631009del, NC_000002.11:g.207631004_207631009del, NC_000002.11:g.207631005_207631009del, NC_000002.11:g.207631006_207631009del, NC_000002.11:g.207631007_207631009del, NC_000002.11:g.207631008_207631009del, NC_000002.11:g.207631009del, NC_000002.11:g.207631009dup, NC_000002.11:g.207631008_207631009dup, NC_000002.11:g.207631007_207631009dup, NC_000002.11:g.207631006_207631009dup, NC_000002.11:g.207631005_207631009dup, NC_000002.11:g.207631004_207631009dup, NC_000002.11:g.207631003_207631009dup, NC_000002.11:g.207631001_207631009dup, NC_000002.11:g.207631009_207631010insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.207631009_207631010insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008984.1:g.5883_5898del, NG_008984.1:g.5884_5898del, NG_008984.1:g.5885_5898del, NG_008984.1:g.5886_5898del, NG_008984.1:g.5887_5898del, NG_008984.1:g.5888_5898del, NG_008984.1:g.5889_5898del, NG_008984.1:g.5890_5898del, NG_008984.1:g.5891_5898del, NG_008984.1:g.5892_5898del, NG_008984.1:g.5893_5898del, NG_008984.1:g.5894_5898del, NG_008984.1:g.5895_5898del, NG_008984.1:g.5896_5898del, NG_008984.1:g.5897_5898del, NG_008984.1:g.5898del, NG_008984.1:g.5898dup, NG_008984.1:g.5897_5898dup, NG_008984.1:g.5896_5898dup, NG_008984.1:g.5895_5898dup, NG_008984.1:g.5894_5898dup, NG_008984.1:g.5893_5898dup, NG_008984.1:g.5892_5898dup, NG_008984.1:g.5890_5898dup, NG_008984.1:g.5898_5899insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008984.1:g.5898_5899insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149112034515.

rs1491120345 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:206766259 (GRCh38)
2:207630983 (GRCh37)
Canonical SPDI:: NC_000002.12:206766258:CA:
Gene:: FASTKD2 (Varview), MDH1B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00034/4 (ALFA)
-=0.00032/5 (TOMMO)
HGVS:: NC_000002.12:g.206766259_206766260del, NC_000002.11:g.207630983_207630984del, NG_008984.1:g.5872_5873del

Select item 149105567916.

rs1491055679 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:206781827 (GRCh38)
2:207646552 (GRCh37)
Canonical SPDI:: NC_000002.12:206781827:TTTTTTT:TTTTTTTT
Gene:: FASTKD2 (Varview), MIR3130-2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.206781834dup, NC_000002.11:g.207646558dup, NG_008984.1:g.21447dup

Select item 149102039217.

rs1491020392 has merged into rs34694536 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 2:206775342 (GRCh38)
2:207640066 (GRCh37)
Canonical SPDI:: NC_000002.12:206775331:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:206775331:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:206775331:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:206775331:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: FASTKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.2159/832 (ALSPAC)
-=0.2179/808 (TWINSUK)
T=0.499/2338 (1000Genomes)
HGVS:: NC_000002.12:g.206775342_206775343del, NC_000002.12:g.206775343del, NC_000002.12:g.206775343dup, NC_000002.12:g.206775342_206775343dup, NC_000002.11:g.207640066_207640067del, NC_000002.11:g.207640067del, NC_000002.11:g.207640067dup, NC_000002.11:g.207640066_207640067dup, NG_008984.1:g.14955_14956del, NG_008984.1:g.14956del, NG_008984.1:g.14956dup, NG_008984.1:g.14955_14956dup

Select item 149101929218.

rs1491019292 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGG [Show Flanks]
Chromosome:: 2:206804334 (GRCh38)
2:207669059 (GRCh37)
Canonical SPDI:: NC_000002.12:206804334:G:GTGGG
Validated:: by frequency,by alfa
MAF:: GTGGG=0./0 (ALFA)
GTGG=0.000017/2 (GnomAD)
HGVS:: NC_000002.12:g.206804335_206804336insTGGG, NC_000002.11:g.207669059_207669060insTGGG

Select item 149101820819.

rs1491018208 has merged into rs66901141 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 2:206805823 (GRCh38)
2:207670547 (GRCh37)
Canonical SPDI:: NC_000002.12:206805812:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:206805812:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:206805812:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:206805812:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:206805812:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:206805812:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.0917/53 (NorthernSweden)
-=0.275/11 (GENOME_DK)
-=0.46346/2321 (1000Genomes)
HGVS:: NC_000002.12:g.206805823_206805826del, NC_000002.12:g.206805824_206805826del, NC_000002.12:g.206805825_206805826del, NC_000002.12:g.206805826del, NC_000002.12:g.206805826dup, NC_000002.12:g.206805825_206805826dup, NC_000002.11:g.207670547_207670550del, NC_000002.11:g.207670548_207670550del, NC_000002.11:g.207670549_207670550del, NC_000002.11:g.207670550del, NC_000002.11:g.207670550dup, NC_000002.11:g.207670549_207670550dup

Select item 149095951120.

rs1490959511 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:206846917 (GRCh38)
2:207711641 (GRCh37)
Canonical SPDI:: NC_000002.12:206846916:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.206846917A>G, NC_000002.11:g.207711641A>G

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