SNP Links for Gene (Select 105375240) - SNP

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Select item 14915532031.

rs1491553203 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:39551728 (GRCh38)
7:39591327 (GRCh37)
Canonical SPDI:: NC_000007.14:39551725:GAGA:GA
Gene:: YAE1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGA=0.00008/1 (ALFA)
-=0.01144/750 (GnomAD)
-=0.02568/15 (NorthernSweden)
-=0.02621/101 (ALSPAC)
-=0.02724/101 (TWINSUK)
-=0.02797/49 (Korea1K)
-=0.03458/560 (TOMMO)
HGVS:: NC_000007.14:g.39551726GA[1], NC_000007.13:g.39591325GA[1]

Select item 14913736742.

rs1491373674 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 7:39551802 (GRCh38)
7:39591401 (GRCh37)
Canonical SPDI:: NC_000007.14:39551800:AAA:A,NC_000007.14:39551800:AAA:AA
Gene:: YAE1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00051/6 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.39551802_39551803del, NC_000007.14:g.39551803del, NC_000007.13:g.39591401_39591402del, NC_000007.13:g.39591402del

Select item 14913534133.

rs1491353413 [Homo sapiens]

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

Select item 14913511164.

rs1491351116 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAA [Show Flanks]
Chromosome:: 7:39551693 (GRCh38)
7:39591293 (GRCh37)
Canonical SPDI:: NC_000007.14:39551693:GAA:GAAAGAA
Gene:: YAE1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GAAAGAA=0./0 (ALFA)
GAAA=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.39551696_39551697insAGAA, NC_000007.13:g.39591295_39591296insAGAA

Select item 14913188885.

rs1491318888 [Homo sapiens]

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

Select item 14912922316.

rs1491292231 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAG [Show Flanks]
Chromosome:: 7:39551801 (GRCh38)
7:39591401 (GRCh37)
Canonical SPDI:: NC_000007.14:39551801:AAG:AAGGAAG
Gene:: YAE1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAGGAAG=0./0 (ALFA)
AAGG=0.000103/14 (GnomAD)
HGVS:: NC_000007.14:g.39551804_39551805insGAAG, NC_000007.13:g.39591403_39591404insGAAG

Select item 14912601047.

rs1491260104 has merged into rs557938128 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:39559138 (GRCh38)
7:39598737 (GRCh37)
Canonical SPDI:: NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39559112:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: YAE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.39559114GT[12], NC_000007.14:g.39559114GT[13], NC_000007.14:g.39559114GT[14], NC_000007.14:g.39559114GT[15], NC_000007.14:g.39559114GT[16], NC_000007.14:g.39559114GT[17], NC_000007.14:g.39559114GT[18], NC_000007.14:g.39559114GT[19], NC_000007.14:g.39559114GT[20], NC_000007.14:g.39559114GT[21], NC_000007.14:g.39559114GT[22], NC_000007.14:g.39559114GT[23], NC_000007.14:g.39559114GT[24], NC_000007.14:g.39559114GT[26], NC_000007.14:g.39559114GT[27], NC_000007.14:g.39559114GT[28], NC_000007.14:g.39559114GT[29], NC_000007.14:g.39559114GT[30], NC_000007.14:g.39559114GT[31], NC_000007.14:g.39559114GT[32], NC_000007.14:g.39559114GT[33], NC_000007.14:g.39559114GT[34], NC_000007.14:g.39559114GT[35], NC_000007.14:g.39559114GT[36], NC_000007.14:g.39559114GT[37], NC_000007.14:g.39559114GT[38], NC_000007.14:g.39559114GT[39], NC_000007.13:g.39598713GT[12], NC_000007.13:g.39598713GT[13], NC_000007.13:g.39598713GT[14], NC_000007.13:g.39598713GT[15], NC_000007.13:g.39598713GT[16], NC_000007.13:g.39598713GT[17], NC_000007.13:g.39598713GT[18], NC_000007.13:g.39598713GT[19], NC_000007.13:g.39598713GT[20], NC_000007.13:g.39598713GT[21], NC_000007.13:g.39598713GT[22], NC_000007.13:g.39598713GT[23], NC_000007.13:g.39598713GT[24], NC_000007.13:g.39598713GT[26], NC_000007.13:g.39598713GT[27], NC_000007.13:g.39598713GT[28], NC_000007.13:g.39598713GT[29], NC_000007.13:g.39598713GT[30], NC_000007.13:g.39598713GT[31], NC_000007.13:g.39598713GT[32], NC_000007.13:g.39598713GT[33], NC_000007.13:g.39598713GT[34], NC_000007.13:g.39598713GT[35], NC_000007.13:g.39598713GT[36], NC_000007.13:g.39598713GT[37], NC_000007.13:g.39598713GT[38], NC_000007.13:g.39598713GT[39]

Select item 14912009348.

rs1491200934 has merged into rs70996814 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA>-,AAGA,AAGAAAGA,AAGAAAGAAAGA,AAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA [Show Flanks]
Chromosome:: 7:39551758 (GRCh38)
7:39591357 (GRCh37)
Canonical SPDI:: NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000007.14:39551726:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA
Gene:: YAE1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA=0./0 (ALFA)
AGAAAGAAAGAAAGAAAGAAAGAAAGAA=0.0426/158 (TWINSUK)
AGAAAGAAAGAAAGAAAGAAAGAAAGAA=0.0454/175 (ALSPAC)
AGAAAGAAAGAAAGAAAGAAAGAA=0.2/8 (GENOME_DK)
HGVS:: NC_000007.14:g.39551730AAGA[7], NC_000007.14:g.39551730AAGA[8], NC_000007.14:g.39551730AAGA[9], NC_000007.14:g.39551730AAGA[10], NC_000007.14:g.39551730AAGA[11], NC_000007.14:g.39551730AAGA[12], NC_000007.14:g.39551730AAGA[13], NC_000007.14:g.39551730AAGA[14], NC_000007.14:g.39551730AAGA[15], NC_000007.14:g.39551730AAGA[16], NC_000007.14:g.39551730AAGA[17], NC_000007.14:g.39551730AAGA[18], NC_000007.14:g.39551730AAGA[19], NC_000007.14:g.39551730AAGA[21], NC_000007.14:g.39551730AAGA[22], NC_000007.14:g.39551730AAGA[23], NC_000007.14:g.39551730AAGA[24], NC_000007.13:g.39591329AAGA[7], NC_000007.13:g.39591329AAGA[8], NC_000007.13:g.39591329AAGA[9], NC_000007.13:g.39591329AAGA[10], NC_000007.13:g.39591329AAGA[11], NC_000007.13:g.39591329AAGA[12], NC_000007.13:g.39591329AAGA[13], NC_000007.13:g.39591329AAGA[14], NC_000007.13:g.39591329AAGA[15], NC_000007.13:g.39591329AAGA[16], NC_000007.13:g.39591329AAGA[17], NC_000007.13:g.39591329AAGA[18], NC_000007.13:g.39591329AAGA[19], NC_000007.13:g.39591329AAGA[21], NC_000007.13:g.39591329AAGA[22], NC_000007.13:g.39591329AAGA[23], NC_000007.13:g.39591329AAGA[24]

Select item 14906061819.

rs1490606181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:39559029 (GRCh38)
7:39598628 (GRCh37)
Canonical SPDI:: NC_000007.14:39559028:C:T
Gene:: YAE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.39559029C>T, NC_000007.13:g.39598628C>T

Select item 149058046310.

rs1490580463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:39552633 (GRCh38)
7:39592232 (GRCh37)
Canonical SPDI:: NC_000007.14:39552632:C:A,NC_000007.14:39552632:C:T
Gene:: YAE1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/4 (GnomAD)
A=0.000039/1 (TOMMO)
HGVS:: NC_000007.14:g.39552633C>A, NC_000007.14:g.39552633C>T, NC_000007.13:g.39592232C>A, NC_000007.13:g.39592232C>T

Select item 149044426311.

rs1490444263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:39553649 (GRCh38)
7:39593248 (GRCh37)
Canonical SPDI:: NC_000007.14:39553648:A:C
Gene:: YAE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.39553649A>C, NC_000007.13:g.39593248A>C

Select item 149013582112.

rs1490135821 has merged into rs531569572 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA [Show Flanks]
Chromosome:: 7:39568270 (GRCh38)
7:39607869 (GRCh37)
Canonical SPDI:: NC_000007.14:39568258:ATATATATATATATA:ATATATATATA,NC_000007.14:39568258:ATATATATATATATA:ATATATATATATA,NC_000007.14:39568258:ATATATATATATATA:ATATATATATATATATA,NC_000007.14:39568258:ATATATATATATATA:ATATATATATATATATATA
Gene:: YAE1 (Varview), YAE1-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATA=0./0 (ALFA)
AT=0.00004/1 (TOMMO)
-=0.00493/9 (Korea1K)
HGVS:: NC_000007.14:g.39568260TA[5], NC_000007.14:g.39568260TA[6], NC_000007.14:g.39568260TA[8], NC_000007.14:g.39568260TA[9], NC_000007.13:g.39607859TA[5], NC_000007.13:g.39607859TA[6], NC_000007.13:g.39607859TA[8], NC_000007.13:g.39607859TA[9], NG_006154.2:g.2060AT[5], NG_006154.2:g.2060AT[6], NG_006154.2:g.2060AT[8], NG_006154.2:g.2060AT[9]

Select item 149011860413.

rs1490118604 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:39552718 (GRCh38)
7:39592317 (GRCh37)
Canonical SPDI:: NC_000007.14:39552717:C:A,NC_000007.14:39552717:C:G,NC_000007.14:39552717:C:T
Gene:: YAE1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.39552718C>A, NC_000007.14:g.39552718C>G, NC_000007.14:g.39552718C>T, NC_000007.13:g.39592317C>A, NC_000007.13:g.39592317C>G, NC_000007.13:g.39592317C>T

Select item 149011711614.

rs1490117116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:39559999 (GRCh38)
7:39599598 (GRCh37)
Canonical SPDI:: NC_000007.14:39559998:C:T
Gene:: YAE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000007.14:g.39559999C>T, NC_000007.13:g.39599598C>T

Select item 148922754515.

rs1489227545 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:39556008 (GRCh38)
7:39595607 (GRCh37)
Canonical SPDI:: NC_000007.14:39556007:T:C
Gene:: YAE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.39556008T>C, NC_000007.13:g.39595607T>C

Select item 148913610916.

rs1489136109 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 7:39555400 (GRCh38)
7:39594999 (GRCh37)
Canonical SPDI:: NC_000007.14:39555399:GGG:GG
Gene:: YAE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000007.14:g.39555402del, NC_000007.13:g.39595001del

Select item 148902511417.

rs1489025114 [Homo sapiens]

Variant type:: DEL
Alleles:: ATGATTAAAAAAAATAAGG>- [Show Flanks]
Chromosome:: 7:39556479 (GRCh38)
7:39596078 (GRCh37)
Canonical SPDI:: NC_000007.14:39556478:ATGATTAAAAAAAATAAGG:
Gene:: YAE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.39556479_39556497del, NC_000007.13:g.39596078_39596096del

Select item 148884177218.

rs1488841772 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:39554183 (GRCh38)
7:39593782 (GRCh37)
Canonical SPDI:: NC_000007.14:39554182:T:C,NC_000007.14:39554182:T:G
Gene:: YAE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.39554183T>C, NC_000007.14:g.39554183T>G, NC_000007.13:g.39593782T>C, NC_000007.13:g.39593782T>G

Select item 148865197919.

rs1488651979 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 7:39568131 (GRCh38)
7:39607730 (GRCh37)
Canonical SPDI:: NC_000007.14:39568130:GGG:GG
Gene:: YAE1 (Varview), YAE1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000036/5 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.39568133del, NC_000007.13:g.39607732del, NG_006154.2:g.2201del

Select item 148862362020.

rs1488623620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:39565981 (GRCh38)
7:39605580 (GRCh37)
Canonical SPDI:: NC_000007.14:39565980:T:A,NC_000007.14:39565980:T:G
Gene:: YAE1 (Varview), YAE1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000053/14 (TOPMED)
G=0.000312/2 (1000Genomes)
A=0.000425/7 (TOMMO)
A=0.002396/7 (KOREAN)
HGVS:: NC_000007.14:g.39565981T>A, NC_000007.14:g.39565981T>G, NC_000007.13:g.39605580T>A, NC_000007.13:g.39605580T>G, XR_927189.4:n.384A>T, XR_927189.4:n.384A>C, XR_927189.3:n.384A>T, XR_927189.3:n.384A>C, XR_927189.2:n.304A>T, XR_927189.2:n.304A>C, XR_927189.1:n.373A>T, XR_927189.1:n.373A>C, XR_927188.3:n.384A>T, XR_927188.3:n.384A>C, XR_927188.2:n.304A>T, XR_927188.2:n.304A>C, XR_927188.1:n.372A>T, XR_927188.1:n.372A>C

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