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Select item 14915757781.

rs1491575778 has merged into rs560132949 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGG [Show Flanks]
Chromosome:: 17:19665408 (GRCh38)
17:19568722 (GRCh37)
Canonical SPDI:: NC_000017.11:19665408:G:GTGGG
Gene:: ALDH3A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGGG=0./0 (ALFA)
GTGG=0.000008/1 (GnomAD)
GTGG=0.041515/160 (ALSPAC)
GTGG=0.044498/165 (TWINSUK)
HGVS:: NC_000017.11:g.19665409_19665410insTGGG, NC_000017.10:g.19568722_19568723insTGGG, NG_007095.2:g.21659_21660insTGGG

Select item 14914772572.

rs1491477257 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 17:19646518 (GRCh38)
17:19549831 (GRCh37)
Canonical SPDI:: NC_000017.11:19646517:AC:
Gene:: ALDH3A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.19646518_19646519del, NC_000017.10:g.19549831_19549832del, NG_007095.2:g.2768_2769del

Select item 14914630683.

rs1491463068 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:19646518 (GRCh38)
17:19549832 (GRCh37)
Canonical SPDI:: NC_000017.11:19646518::G
Gene:: ALDH3A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.19646518_19646519insG, NC_000017.10:g.19549831_19549832insG, NG_007095.2:g.2768_2769insG

Select item 14914496344.

rs1491449634 has merged into rs199646264 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:19673356 (GRCh38)
17:19576669 (GRCh37)
Canonical SPDI:: NC_000017.11:19673354:TGT:T
Gene:: ALDH3A2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.19673356_19673357del, NC_000017.10:g.19576669_19576670del, NG_007095.2:g.29606_29607del

Select item 14913672055.

rs1491367205 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 17:19665409 (GRCh38)
17:19568722 (GRCh37)
Canonical SPDI:: NC_000017.11:19665408:GG:
Gene:: ALDH3A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0047/18 (ALSPAC)
-=0.0065/24 (TWINSUK)
HGVS:: NC_000017.11:g.19665409_19665410del, NC_000017.10:g.19568722_19568723del, NG_007095.2:g.21659_21660del

Select item 14913623506.

rs1491362350 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 17:19665376 (GRCh38)
17:19568689 (GRCh37)
Canonical SPDI:: NC_000017.11:19665375:CG:
Gene:: ALDH3A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.000084/9 (GnomAD)
HGVS:: NC_000017.11:g.19665376_19665377del, NC_000017.10:g.19568689_19568690del, NG_007095.2:g.21626_21627del

Select item 14912137487.

rs1491213748 has merged into rs34082599 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:19658758 (GRCh38)
17:19562071 (GRCh37)
Canonical SPDI:: NC_000017.11:19658748:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:19658748:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:19658748:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:19658748:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:19658748:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:19658748:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:19658748:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:19658748:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: ALDH3A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.002577/682 (TOPMED)
A=0.332468/1665 (1000Genomes)
A=0.425/17 (GENOME_DK)
HGVS:: NC_000017.11:g.19658758_19658765del, NC_000017.11:g.19658762_19658765del, NC_000017.11:g.19658763_19658765del, NC_000017.11:g.19658764_19658765del, NC_000017.11:g.19658765del, NC_000017.11:g.19658765dup, NC_000017.11:g.19658763_19658765dup, NC_000017.11:g.19658762_19658765dup, NC_000017.10:g.19562071_19562078del, NC_000017.10:g.19562075_19562078del, NC_000017.10:g.19562076_19562078del, NC_000017.10:g.19562077_19562078del, NC_000017.10:g.19562078del, NC_000017.10:g.19562078dup, NC_000017.10:g.19562076_19562078dup, NC_000017.10:g.19562075_19562078dup, NG_007095.2:g.15008_15015del, NG_007095.2:g.15012_15015del, NG_007095.2:g.15013_15015del, NG_007095.2:g.15014_15015del, NG_007095.2:g.15015del, NG_007095.2:g.15015dup, NG_007095.2:g.15013_15015dup, NG_007095.2:g.15012_15015dup

Select item 14909822958.

rs1490982295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:19666542 (GRCh38)
17:19569855 (GRCh37)
Canonical SPDI:: NC_000017.11:19666541:C:T
Gene:: ALDH3A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.19666542C>T, NC_000017.10:g.19569855C>T, NG_007095.2:g.22792C>T

Select item 14909264579.

rs1490926457 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:19667603 (GRCh38)
17:19570916 (GRCh37)
Canonical SPDI:: NC_000017.11:19667602:A:C
Gene:: ALDH3A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.19667603A>C, NC_000017.10:g.19570916A>C, NG_007095.2:g.23853A>C

Select item 149078013110.

rs1490780131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:19669364 (GRCh38)
17:19572677 (GRCh37)
Canonical SPDI:: NC_000017.11:19669363:G:C
Gene:: ALDH3A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.19669364G>C, NC_000017.10:g.19572677G>C, NG_007095.2:g.25614G>C

Select item 149075008511.

rs1490750085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:19650391 (GRCh38)
17:19553704 (GRCh37)
Canonical SPDI:: NC_000017.11:19650390:C:T
Gene:: ALDH3A2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.19650391C>T, NC_000017.10:g.19553704C>T, NG_007095.2:g.6641C>T

Select item 149072382712.

rs1490723827 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:19666855 (GRCh38)
17:19570168 (GRCh37)
Canonical SPDI:: NC_000017.11:19666854:C:
Gene:: ALDH3A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000108/15 (GnomAD)
HGVS:: NC_000017.11:g.19666855del, NC_000017.10:g.19570168del, NG_007095.2:g.23105del

Select item 149064685413.

rs1490646854 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:19672688 (GRCh38)
17:19576001 (GRCh37)
Canonical SPDI:: NC_000017.11:19672687:A:G
Gene:: ALDH3A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000106/2 (TOMMO)
HGVS:: NC_000017.11:g.19672688A>G, NC_000017.10:g.19576001A>G, NG_007095.2:g.28938A>G

Select item 149061638914.

rs1490616389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:19670442 (GRCh38)
17:19573755 (GRCh37)
Canonical SPDI:: NC_000017.11:19670441:C:T
Gene:: ALDH3A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.19670442C>T, NC_000017.10:g.19573755C>T, NG_007095.2:g.26692C>T

Select item 149054638515.

rs1490546385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:19675744 (GRCh38)
17:19579057 (GRCh37)
Canonical SPDI:: NC_000017.11:19675743:A:G
Gene:: ALDH3A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.19675744A>G, NC_000017.10:g.19579057A>G, NG_007095.2:g.31994A>G, NM_000382.3:c.*172A>G, NM_000382.2:c.*172A>G, NM_001031806.2:c.*228A>G, NM_001031806.1:c.*228A>G, NM_001369137.2:c.*228A>G, NM_001369137.1:c.*228A>G, NM_001369148.2:c.*172A>G, NM_001369148.1:c.*172A>G, NM_001369138.2:c.*172A>G, NM_001369138.1:c.*172A>G, NM_001369146.2:c.*119A>G, NM_001369146.1:c.*119A>G, NM_001369136.1:c.*228A>G, NM_001369139.1:c.*172A>G, XM_047435622.1:c.*119A>G

Select item 149043485816.

rs1490434858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:19667092 (GRCh38)
17:19570405 (GRCh37)
Canonical SPDI:: NC_000017.11:19667091:A:G
Gene:: ALDH3A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.19667092A>G, NC_000017.10:g.19570405A>G, NG_007095.2:g.23342A>G

Select item 149009573517.

rs1490095735 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:19658150 (GRCh38)
17:19561463 (GRCh37)
Canonical SPDI:: NC_000017.11:19658149:T:A
Gene:: ALDH3A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.19658150T>A, NC_000017.10:g.19561463T>A, NG_007095.2:g.14400T>A

Select item 149000278918.

rs1490002789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:19665575 (GRCh38)
17:19568888 (GRCh37)
Canonical SPDI:: NC_000017.11:19665574:G:A
Gene:: ALDH3A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.19665575G>A, NC_000017.10:g.19568888G>A, NG_007095.2:g.21825G>A

Select item 148982127119.

rs1489821271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:19648755 (GRCh38)
17:19552068 (GRCh37)
Canonical SPDI:: NC_000017.11:19648754:C:G,NC_000017.11:19648754:C:T
Gene:: ALDH3A2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.19648755C>G, NC_000017.11:g.19648755C>T, NC_000017.10:g.19552068C>G, NC_000017.10:g.19552068C>T, NG_007095.2:g.5005C>G, NG_007095.2:g.5005C>T, NM_000382.3:c.-217C>G, NM_000382.3:c.-217C>T, NM_000382.2:c.-217C>G, NM_000382.2:c.-217C>T, NM_001031806.2:c.-217C>G, NM_001031806.2:c.-217C>T, NM_001031806.1:c.-217C>G, NM_001031806.1:c.-217C>T, NM_001369136.1:c.-126C>G, NM_001369136.1:c.-126C>T, NM_001369139.1:c.-126C>G, NM_001369139.1:c.-126C>T, XM_047435622.1:c.-217C>G, XM_047435622.1:c.-217C>T

Select item 148974535220.

rs1489745352 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:19649522 (GRCh38)
17:19552835 (GRCh37)
Canonical SPDI:: NC_000017.11:19649521:T:C
Gene:: ALDH3A2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.19649522T>C, NC_000017.10:g.19552835T>C, NG_007095.2:g.5772T>C

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