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Select item 14915572811.

rs1491557281 has merged into rs35843379 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAGAAAGAAAGAAAGAAA>-,GAAA,GAAAGAAA,GAAAGAAAGAAA,GAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA [Show Flanks]
Chromosome:: 9:72908527 (GRCh38)
9:75523443 (GRCh37)
Canonical SPDI:: NC_000009.12:72908506:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAA,NC_000009.12:72908506:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAA,NC_000009.12:72908506:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000009.12:72908506:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000009.12:72908506:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000009.12:72908506:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000009.12:72908506:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000009.12:72908506:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAAGAAAGAAAGAAAGAAAGAAA=0./0 (ALFA)
GAAA=0.475/19 (GENOME_DK)
HGVS:: NC_000009.12:g.72908507GAAA[5], NC_000009.12:g.72908507GAAA[6], NC_000009.12:g.72908507GAAA[7], NC_000009.12:g.72908507GAAA[8], NC_000009.12:g.72908507GAAA[9], NC_000009.12:g.72908507GAAA[11], NC_000009.12:g.72908507GAAA[12], NC_000009.12:g.72908507GAAA[13], NC_000009.11:g.75523423GAAA[5], NC_000009.11:g.75523423GAAA[6], NC_000009.11:g.75523423GAAA[7], NC_000009.11:g.75523423GAAA[8], NC_000009.11:g.75523423GAAA[9], NC_000009.11:g.75523423GAAA[11], NC_000009.11:g.75523423GAAA[12], NC_000009.11:g.75523423GAAA[13], NG_012249.1:g.49508TTTC[5], NG_012249.1:g.49508TTTC[6], NG_012249.1:g.49508TTTC[7], NG_012249.1:g.49508TTTC[8], NG_012249.1:g.49508TTTC[9], NG_012249.1:g.49508TTTC[11], NG_012249.1:g.49508TTTC[12], NG_012249.1:g.49508TTTC[13]

Select item 14915448942.

rs1491544894 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:72908574 (GRCh38)
9:75523491 (GRCh37)
Canonical SPDI:: NC_000009.12:72908574:G:GG
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000009.12:g.72908575dup, NC_000009.11:g.75523491dup, NG_012249.1:g.49479dup

Select item 14914652953.

rs1491465295 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 9:72908575 (GRCh38)
9:75523491 (GRCh37)
Canonical SPDI:: NC_000009.12:72908573:AGA:A
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00034/4 (ALFA)
HGVS:: NC_000009.12:g.72908575_72908576del, NC_000009.11:g.75523491_75523492del, NG_012249.1:g.49479_49480del

Select item 14914594514.

rs1491459451 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 9:72908506 (GRCh38)
9:75523422 (GRCh37)
Canonical SPDI:: NC_000009.12:72908505:CG:
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000009.12:g.72908506_72908507del, NC_000009.11:g.75523422_75523423del, NG_012249.1:g.49547_49548del

Select item 14913477125.

rs1491347712 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 9:72916333 (GRCh38)
9:75531249 (GRCh37)
Canonical SPDI:: NC_000009.12:72916332:AA:
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0002/1 (1000Genomes)
HGVS:: NC_000009.12:g.72916333_72916334del, NC_000009.11:g.75531249_75531250del, NG_012249.1:g.41720_41721del

Select item 14911204586.

rs1491120458 [Homo sapiens]

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

Select item 14910809227.

rs1491080922 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 9:72908539 (GRCh38)
9:75523455 (GRCh37)
Canonical SPDI:: NC_000009.12:72908537:AGA:A
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000009.12:g.72908539_72908540del, NC_000009.11:g.75523455_75523456del, NG_012249.1:g.49515_49516del

Select item 14909779618.

rs1490977961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:72935904 (GRCh38)
9:75550820 (GRCh37)
Canonical SPDI:: NC_000009.12:72935903:G:A
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.72935904G>A, NC_000009.11:g.75550820G>A, NG_012249.1:g.22150C>T

Select item 14909460489.

rs1490946048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:72919366 (GRCh38)
9:75534282 (GRCh37)
Canonical SPDI:: NC_000009.12:72919365:C:A
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.72919366C>A, NC_000009.11:g.75534282C>A, NG_012249.1:g.38688G>T

Select item 149086718210.

rs1490867182 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:72951602 (GRCh38)
9:75566518 (GRCh37)
Canonical SPDI:: NC_000009.12:72951601:T:C
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.72951602T>C, NC_000009.11:g.75566518T>C, NG_012249.1:g.6452A>G

Select item 149086292711.

rs1490862927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:72905797 (GRCh38)
9:75520713 (GRCh37)
Canonical SPDI:: NC_000009.12:72905796:A:G
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000009.12:g.72905797A>G, NC_000009.11:g.75520713A>G, NG_012249.1:g.52257T>C

Select item 149078350712.

rs1490783507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:72930077 (GRCh38)
9:75544993 (GRCh37)
Canonical SPDI:: NC_000009.12:72930076:G:A
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.72930077G>A, NC_000009.11:g.75544993G>A, NG_012249.1:g.27977C>T

Select item 149069132813.

rs1490691328 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:72927921 (GRCh38)
9:75542837 (GRCh37)
Canonical SPDI:: NC_000009.12:72927920:T:C
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.00006/1 (TOMMO)
HGVS:: NC_000009.12:g.72927921T>C, NC_000009.11:g.75542837T>C, NG_012249.1:g.30133A>G

Select item 149066328014.

rs1490663280 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 9:72945574 (GRCh38)
9:75560490 (GRCh37)
Canonical SPDI:: NC_000009.12:72945573:G:
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.72945574del, NC_000009.11:g.75560490del, NG_012249.1:g.12480del

Select item 149063688815.

rs1490636888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:72908875 (GRCh38)
9:75523791 (GRCh37)
Canonical SPDI:: NC_000009.12:72908874:T:C
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.72908875T>C, NC_000009.11:g.75523791T>C, NG_012249.1:g.49179A>G

Select item 149057318616.

rs1490573186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:72949678 (GRCh38)
9:75564594 (GRCh37)
Canonical SPDI:: NC_000009.12:72949677:T:A,NC_000009.12:72949677:T:C
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.72949678T>A, NC_000009.12:g.72949678T>C, NC_000009.11:g.75564594T>A, NC_000009.11:g.75564594T>C, NG_012249.1:g.8376A>T, NG_012249.1:g.8376A>G

Select item 149048926717.

rs1490489267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:72936450 (GRCh38)
9:75551366 (GRCh37)
Canonical SPDI:: NC_000009.12:72936449:G:A
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.72936450G>A, NC_000009.11:g.75551366G>A, NG_012249.1:g.21604C>T

Select item 149029145618.

rs1490291456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:72954173 (GRCh38)
9:75569089 (GRCh37)
Canonical SPDI:: NC_000009.12:72954172:C:G
Gene:: ALDH1A1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000009.12:g.72954173C>G, NC_000009.11:g.75569089C>G, NG_012249.1:g.3881G>C

Select item 149029140619.

rs1490291406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:72931298 (GRCh38)
9:75546214 (GRCh37)
Canonical SPDI:: NC_000009.12:72931297:C:G
Gene:: ALDH1A1 (Varview)
Functional Consequence:: 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_000009.12:g.72931298C>G, NC_000009.11:g.75546214C>G, NG_012249.1:g.26756G>C

Select item 149016515420.

rs1490165154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:72909871 (GRCh38)
9:75524787 (GRCh37)
Canonical SPDI:: NC_000009.12:72909870:T:A
Gene:: ALDH1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.72909871T>A, NC_000009.11:g.75524787T>A, NG_012249.1:g.48183A>T

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