SNP Links for Gene (Select 4289) - SNP

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Select item 14915785321.

rs1491578532 has merged into rs1554534633 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 7:131192085 (GRCh38)
7:130876844 (GRCh37)
Canonical SPDI:: NC_000007.14:131192078:ATATATAT:ATATAT,NC_000007.14:131192078:ATATATAT:ATATATATAT,NC_000007.14:131192078:ATATATAT:ATATATATATAT
Gene:: MKLN1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAT=0./0 (ALFA)
HGVS:: NC_000007.14:g.131192079AT[3], NC_000007.14:g.131192079AT[5], NC_000007.14:g.131192079AT[6], NC_000007.13:g.130876838AT[3], NC_000007.13:g.130876838AT[5], NC_000007.13:g.130876838AT[6]

Select item 14915765862.

rs1491576586 has merged into rs907079191 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC [Show Flanks]
Chromosome:: 7:131466915 (GRCh38)
7:131151674 (GRCh37)
Canonical SPDI:: NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACAC,NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACAC,NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACAC,NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACAC,NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACAC,NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACACACAC
Gene:: MKLN1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACAC=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.131466905AC[5], NC_000007.14:g.131466905AC[6], NC_000007.14:g.131466905AC[7], NC_000007.14:g.131466905AC[8], NC_000007.14:g.131466905AC[9], NC_000007.14:g.131466905AC[11], NC_000007.14:g.131466905AC[12], NC_000007.14:g.131466905AC[13], NC_000007.14:g.131466905AC[14], NC_000007.13:g.131151664AC[5], NC_000007.13:g.131151664AC[6], NC_000007.13:g.131151664AC[7], NC_000007.13:g.131151664AC[8], NC_000007.13:g.131151664AC[9], NC_000007.13:g.131151664AC[11], NC_000007.13:g.131151664AC[12], NC_000007.13:g.131151664AC[13], NC_000007.13:g.131151664AC[14]

Select item 14915608253.

rs1491560825 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:131317766 (GRCh38)
7:131002526 (GRCh37)
Canonical SPDI:: NC_000007.14:131317766::G
Gene:: MKLN1 (Varview), MKLN1-AS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.131317766_131317767insG, NC_000007.13:g.131002525_131002526insG

Select item 14915548534.

rs1491554853 has merged into rs59581806 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:131123035 (GRCh38)
7:130807794 (GRCh37)
Canonical SPDI:: NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131123022:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MKLN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
-=0.48/2404 (1000Genomes)
HGVS:: NC_000007.14:g.131123035_131123049del, NC_000007.14:g.131123036_131123049del, NC_000007.14:g.131123037_131123049del, NC_000007.14:g.131123038_131123049del, NC_000007.14:g.131123039_131123049del, NC_000007.14:g.131123040_131123049del, NC_000007.14:g.131123041_131123049del, NC_000007.14:g.131123042_131123049del, NC_000007.14:g.131123043_131123049del, NC_000007.14:g.131123044_131123049del, NC_000007.14:g.131123045_131123049del, NC_000007.14:g.131123046_131123049del, NC_000007.14:g.131123047_131123049del, NC_000007.14:g.131123048_131123049del, NC_000007.14:g.131123049del, NC_000007.14:g.131123049dup, NC_000007.14:g.131123048_131123049dup, NC_000007.14:g.131123047_131123049dup, NC_000007.14:g.131123046_131123049dup, NC_000007.14:g.131123045_131123049dup, NC_000007.14:g.131123044_131123049dup, NC_000007.14:g.131123043_131123049dup, NC_000007.14:g.131123042_131123049dup, NC_000007.14:g.131123041_131123049dup, NC_000007.14:g.131123040_131123049dup, NC_000007.14:g.131123037_131123049dup, NC_000007.14:g.131123036_131123049dup, NC_000007.13:g.130807794_130807808del, NC_000007.13:g.130807795_130807808del, NC_000007.13:g.130807796_130807808del, NC_000007.13:g.130807797_130807808del, NC_000007.13:g.130807798_130807808del, NC_000007.13:g.130807799_130807808del, NC_000007.13:g.130807800_130807808del, NC_000007.13:g.130807801_130807808del, NC_000007.13:g.130807802_130807808del, NC_000007.13:g.130807803_130807808del, NC_000007.13:g.130807804_130807808del, NC_000007.13:g.130807805_130807808del, NC_000007.13:g.130807806_130807808del, NC_000007.13:g.130807807_130807808del, NC_000007.13:g.130807808del, NC_000007.13:g.130807808dup, NC_000007.13:g.130807807_130807808dup, NC_000007.13:g.130807806_130807808dup, NC_000007.13:g.130807805_130807808dup, NC_000007.13:g.130807804_130807808dup, NC_000007.13:g.130807803_130807808dup, NC_000007.13:g.130807802_130807808dup, NC_000007.13:g.130807801_130807808dup, NC_000007.13:g.130807800_130807808dup, NC_000007.13:g.130807799_130807808dup, NC_000007.13:g.130807796_130807808dup, NC_000007.13:g.130807795_130807808dup

Select item 14915243495.

rs1491524349 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:131418369 (GRCh38)
7:131103128 (GRCh37)
Canonical SPDI:: NC_000007.14:131418368:CA:
Gene:: MKLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.131418369_131418370del, NC_000007.13:g.131103128_131103129del

Select item 14915145246.

rs1491514524 has merged into rs146908713 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATT>-,TATTTATT,TATTTATTTATT [Show Flanks]
Chromosome:: 7:131482197 (GRCh38)
7:131166956 (GRCh37)
Canonical SPDI:: NC_000007.14:131482184:TATTTATTTATTTATT:TATTTATTTATT,NC_000007.14:131482184:TATTTATTTATTTATT:TATTTATTTATTTATTTATT,NC_000007.14:131482184:TATTTATTTATTTATT:TATTTATTTATTTATTTATTTATT
Gene:: MKLN1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTTATTTATTTATTTATTTATT=0./0 (ALFA)
-=0.0057/28 (1000Genomes)
-=0.035/21 (NorthernSweden)
-=0.04799/215 (Estonian)
HGVS:: NC_000007.14:g.131482185TATT[3], NC_000007.14:g.131482185TATT[5], NC_000007.14:g.131482185TATT[6], NC_000007.13:g.131166944TATT[3], NC_000007.13:g.131166944TATT[5], NC_000007.13:g.131166944TATT[6]

Select item 14914914317.

rs1491491431 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 7:131466936 (GRCh38)
7:131151696 (GRCh37)
Canonical SPDI:: NC_000007.14:131466936::TT
Gene:: MKLN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: TT=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.131466936_131466937insTT, NC_000007.13:g.131151695_131151696insTT

Select item 14914889318.

rs1491488931 has merged into rs71168387 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:131194014 (GRCh38)
7:130878773 (GRCh37)
Canonical SPDI:: NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MKLN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000007.14:g.131194014_131194020del, NC_000007.14:g.131194015_131194020del, NC_000007.14:g.131194016_131194020del, NC_000007.14:g.131194018_131194020del, NC_000007.14:g.131194019_131194020del, NC_000007.14:g.131194020del, NC_000007.14:g.131194020dup, NC_000007.14:g.131194019_131194020dup, NC_000007.14:g.131194018_131194020dup, NC_000007.14:g.131194017_131194020dup, NC_000007.14:g.131194020_131194021insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.131194020_131194021insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.130878773_130878779del, NC_000007.13:g.130878774_130878779del, NC_000007.13:g.130878775_130878779del, NC_000007.13:g.130878777_130878779del, NC_000007.13:g.130878778_130878779del, NC_000007.13:g.130878779del, NC_000007.13:g.130878779dup, NC_000007.13:g.130878778_130878779dup, NC_000007.13:g.130878777_130878779dup, NC_000007.13:g.130878776_130878779dup, NC_000007.13:g.130878779_130878780insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.130878779_130878780insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914766389.

rs1491476638 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:131488676 (GRCh38)
7:131173435 (GRCh37)
Canonical SPDI:: NC_000007.14:131488670:GAGAGAG:GAGAG
Gene:: MKLN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAGAG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.131488672AG[2], NC_000007.13:g.131173431AG[2], NM_013255.5:c.*944AG[2], NM_013255.4:c.*944AG[2], XM_006715993.4:c.*985AG[2], XM_006715993.3:c.*985AG[2], XM_006715993.2:c.*985AG[2], XM_006715993.1:c.*985AG[2], NM_001145354.2:c.*944AG[2], NM_001145354.1:c.*944AG[2], NM_001321316.2:c.*944AG[2], NM_001321316.1:c.*944AG[2], XM_047420402.1:c.*944AG[2], XM_047420401.1:c.*985AG[2]

Select item 149147336410.

rs1491473364 has merged into rs61416767 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:131168877 (GRCh38)
7:130853636 (GRCh37)
Canonical SPDI:: NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MKLN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.131168877_131168885del, NC_000007.14:g.131168878_131168885del, NC_000007.14:g.131168880_131168885del, NC_000007.14:g.131168882_131168885del, NC_000007.14:g.131168883_131168885del, NC_000007.14:g.131168884_131168885del, NC_000007.14:g.131168885del, NC_000007.14:g.131168885dup, NC_000007.14:g.131168884_131168885dup, NC_000007.14:g.131168883_131168885dup, NC_000007.14:g.131168877_131168885dup, NC_000007.14:g.131168876_131168885dup, NC_000007.13:g.130853636_130853644del, NC_000007.13:g.130853637_130853644del, NC_000007.13:g.130853639_130853644del, NC_000007.13:g.130853641_130853644del, NC_000007.13:g.130853642_130853644del, NC_000007.13:g.130853643_130853644del, NC_000007.13:g.130853644del, NC_000007.13:g.130853644dup, NC_000007.13:g.130853643_130853644dup, NC_000007.13:g.130853642_130853644dup, NC_000007.13:g.130853636_130853644dup, NC_000007.13:g.130853635_130853644dup

Select item 149146823011.

rs1491468230 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:131133341 (GRCh38)
7:130818100 (GRCh37)
Canonical SPDI:: NC_000007.14:131133339:TCT:T
Gene:: MKLN1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000087/11 (GnomAD)
HGVS:: NC_000007.14:g.131133341_131133342del, NC_000007.13:g.130818100_130818101del

Select item 149146414212.

rs1491464142 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:131266173 (GRCh38)
7:130950932 (GRCh37)
Canonical SPDI:: NC_000007.14:131266172:CA:
Gene:: MKLN1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00135/16 (ALFA)
HGVS:: NC_000007.14:g.131266173_131266174del, NC_000007.13:g.130950932_130950933del

Select item 149145902713.

rs1491459027 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:131321259 (GRCh38)
7:131006018 (GRCh37)
Canonical SPDI:: NC_000007.14:131321256:AGAG:AG
Gene:: MKLN1 (Varview), MKLN1-AS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.131321257AG[1], NC_000007.13:g.131006016AG[1]

Select item 149144980414.

rs1491449804 has merged into rs34469545 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 7:131211613 (GRCh38)
7:130896372 (GRCh37)
Canonical SPDI:: NC_000007.14:131211602:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:131211602:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:131211602:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:131211602:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:131211602:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: MKLN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1112/468 (1000Genomes)
-=0.2206/850 (ALSPAC)
HGVS:: NC_000007.14:g.131211613_131211615del, NC_000007.14:g.131211614_131211615del, NC_000007.14:g.131211615del, NC_000007.14:g.131211615dup, NC_000007.14:g.131211614_131211615dup, NC_000007.13:g.130896372_130896374del, NC_000007.13:g.130896373_130896374del, NC_000007.13:g.130896374del, NC_000007.13:g.130896374dup, NC_000007.13:g.130896373_130896374dup

Select item 149144887515.

rs1491448875 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:131413098 (GRCh38)
7:131097858 (GRCh37)
Canonical SPDI:: NC_000007.14:131413098:GGGG:GGGGG
Gene:: MKLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000036/5 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000007.14:g.131413102dup, NC_000007.13:g.131097861dup

Select item 149144014616.

rs1491440146 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:131162001 (GRCh38)
7:130846760 (GRCh37)
Canonical SPDI:: NC_000007.14:131161999:TGT:T
Gene:: MKLN1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00017/13 (GnomAD)
-=0.00047/3 (1000Genomes)
-=0.00213/36 (TOMMO)
HGVS:: NC_000007.14:g.131162001_131162002del, NC_000007.13:g.130846760_130846761del

Select item 149136958417.

rs1491369584 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:131133340 (GRCh38)
7:130818100 (GRCh37)
Canonical SPDI:: NC_000007.14:131133340:C:CC
Gene:: MKLN1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000041/5 (GnomAD)
HGVS:: NC_000007.14:g.131133341dup, NC_000007.13:g.130818100dup

Select item 149136887018.

rs1491368870 has merged into rs59893973 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 7:131486269 (GRCh38)
7:131171028 (GRCh37)
Canonical SPDI:: NC_000007.14:131486258:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:131486258:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:131486258:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:131486258:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:131486258:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:131486258:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: MKLN1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.375/15 (GENOME_DK)
A=0.4461/265 (NorthernSweden)
A=0.4529/2268 (1000Genomes)
A=0.4587/1768 (ALSPAC)
A=0.4606/1708 (TWINSUK)
HGVS:: NC_000007.14:g.131486269_131486271del, NC_000007.14:g.131486270_131486271del, NC_000007.14:g.131486271del, NC_000007.14:g.131486271dup, NC_000007.14:g.131486270_131486271dup, NC_000007.14:g.131486269_131486271dup, NC_000007.13:g.131171028_131171030del, NC_000007.13:g.131171029_131171030del, NC_000007.13:g.131171030del, NC_000007.13:g.131171030dup, NC_000007.13:g.131171029_131171030dup, NC_000007.13:g.131171028_131171030dup

Select item 149135138919.

rs1491351389 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:131192153 (GRCh38)
7:130876913 (GRCh37)
Canonical SPDI:: NC_000007.14:131192153::T
Gene:: MKLN1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000918/102 (GnomAD)
HGVS:: NC_000007.14:g.131192153_131192154insT, NC_000007.13:g.130876912_130876913insT

Select item 149134550020.

rs1491345500 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:131184531 (GRCh38)
7:130869291 (GRCh37)
Canonical SPDI:: NC_000007.14:131184531::G
Gene:: MKLN1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/2 (GnomAD)
HGVS:: NC_000007.14:g.131184531_131184532insG, NC_000007.13:g.130869290_130869291insG

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