SNP Links for Gene (Select 222) - SNP

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Select item 14915565321.

rs1491556532 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTTTGT [Show Flanks]
Chromosome:: 11:67672089 (GRCh38)
11:67439560 (GRCh37)
Canonical SPDI:: NC_000011.10:67672087:TGT:T,NC_000011.10:67672087:TGT:TGTTTGT
Gene:: ALDH3B2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00006/5 (GnomAD)
TGTT=0.00056/1 (Korea1K)
HGVS:: NC_000011.10:g.67672089_67672090del, NC_000011.10:g.67672090_67672091insTTGT, NC_000011.9:g.67439560_67439561del, NC_000011.9:g.67439561_67439562insTTGT, NG_012255.2:g.14136_14137del, NG_012255.2:g.14137_14138insAACA

Select item 14915248972.

rs1491524897 has merged into rs36154763 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATACACACTATGGTGTCTATATATATATATATATA,TATATATA,TATATATATA,TATATATATATA [Show Flanks]
Chromosome:: 11:67678720 (GRCh38)
11:67446191 (GRCh37)
Canonical SPDI:: NC_000011.10:67678707:TATATATATATATATA:TATATATATATA,NC_000011.10:67678707:TATATATATATATATA:TATATATATATATA,NC_000011.10:67678707:TATATATATATATATA:TATATATATATATATATA,NC_000011.10:67678707:TATATATATATATATA:TATATATATATATATATACACACTATGGTGTCTATATATATATATATATA,NC_000011.10:67678707:TATATATATATATATA:TATATATATATATATATATA,NC_000011.10:67678707:TATATATATATATATA:TATATATATATATATATATATA,NC_000011.10:67678707:TATATATATATATATA:TATATATATATATATATATATATA
Gene:: ALDH3B2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000011.10:g.67678708TA[6], NC_000011.10:g.67678708TA[7], NC_000011.10:g.67678708TA[9], NC_000011.10:g.67678708_67678723TA[9]CA[2]CTATGGTGTCTATATATATATATATATA[1], NC_000011.10:g.67678708TA[10], NC_000011.10:g.67678708TA[11], NC_000011.10:g.67678708TA[12], NC_000011.9:g.67446179TA[6], NC_000011.9:g.67446179TA[7], NC_000011.9:g.67446179TA[9], NC_000011.9:g.67446179_67446194TA[9]CA[2]CTATGGTGTCTATATATATATATATATA[1], NC_000011.9:g.67446179TA[10], NC_000011.9:g.67446179TA[11], NC_000011.9:g.67446179TA[12], NG_012255.2:g.7502TA[6], NG_012255.2:g.7502TA[7], NG_012255.2:g.7502TA[9], NG_012255.2:g.7502_7517TA[9]GACACCATAGTGTGTATATATATATATATATA[1], NG_012255.2:g.7502TA[10], NG_012255.2:g.7502TA[11], NG_012255.2:g.7502TA[12]

Select item 14915140033.

rs1491514003 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC [Show Flanks]
Chromosome:: 11:67669823 (GRCh38)
11:67437295 (GRCh37)
Canonical SPDI:: NC_000011.10:67669823::CC
Gene:: ALDH3B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
CC=0.000026/3 (GnomAD)
HGVS:: NC_000011.10:g.67669823_67669824insCC, NC_000011.9:g.67437294_67437295insCC, NG_012255.2:g.16401_16402insGG

Select item 14915034044.

rs1491503404 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATATGTA,ATGTA,G,GTA [Show Flanks]
Chromosome:: 11:67672149 (GRCh38)
11:67439621 (GRCh37)
Canonical SPDI:: NC_000011.10:67672149::ATATGTA,NC_000011.10:67672149::ATGTA,NC_000011.10:67672149::G,NC_000011.10:67672149::GTA
Gene:: ALDH3B2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGTA=0./0 (ALFA)
HGVS:: NC_000011.10:g.67672149_67672150insATATGTA, NC_000011.10:g.67672149_67672150insATGTA, NC_000011.10:g.67672149_67672150insG, NC_000011.10:g.67672149_67672150insGTA, NC_000011.9:g.67439620_67439621insATATGTA, NC_000011.9:g.67439620_67439621insATGTA, NC_000011.9:g.67439620_67439621insG, NC_000011.9:g.67439620_67439621insGTA, NG_012255.2:g.14075_14076insTACATAT, NG_012255.2:g.14075_14076insTACAT, NG_012255.2:g.14075_14076insC, NG_012255.2:g.14075_14076insTAC

Select item 14914521635.

rs1491452163 [Homo sapiens]

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

Select item 14914506466.

rs1491450646 has merged into rs34057662 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 11:67678648 (GRCh38)
11:67446119 (GRCh37)
Canonical SPDI:: NC_000011.10:67678636:ATATATATATATATA:ATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATATATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATATATATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:67678636:ATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA
Gene:: ALDH3B2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
AT=0.07333/44 (NorthernSweden)
HGVS:: NC_000011.10:g.67678638TA[5], NC_000011.10:g.67678638TA[6], NC_000011.10:g.67678638TA[8], NC_000011.10:g.67678638TA[9], NC_000011.10:g.67678638TA[10], NC_000011.10:g.67678638TA[11], NC_000011.10:g.67678638TA[12], NC_000011.10:g.67678638TA[13], NC_000011.10:g.67678638TA[14], NC_000011.10:g.67678638TA[15], NC_000011.10:g.67678638TA[16], NC_000011.10:g.67678638TA[17], NC_000011.10:g.67678638TA[18], NC_000011.10:g.67678638TA[19], NC_000011.10:g.67678638TA[20], NC_000011.10:g.67678638TA[21], NC_000011.9:g.67446109TA[5], NC_000011.9:g.67446109TA[6], NC_000011.9:g.67446109TA[8], NC_000011.9:g.67446109TA[9], NC_000011.9:g.67446109TA[10], NC_000011.9:g.67446109TA[11], NC_000011.9:g.67446109TA[12], NC_000011.9:g.67446109TA[13], NC_000011.9:g.67446109TA[14], NC_000011.9:g.67446109TA[15], NC_000011.9:g.67446109TA[16], NC_000011.9:g.67446109TA[17], NC_000011.9:g.67446109TA[18], NC_000011.9:g.67446109TA[19], NC_000011.9:g.67446109TA[20], NC_000011.9:g.67446109TA[21], NG_012255.2:g.7575AT[5], NG_012255.2:g.7575AT[6], NG_012255.2:g.7575AT[8], NG_012255.2:g.7575AT[9], NG_012255.2:g.7575AT[10], NG_012255.2:g.7575AT[11], NG_012255.2:g.7575AT[12], NG_012255.2:g.7575AT[13], NG_012255.2:g.7575AT[14], NG_012255.2:g.7575AT[15], NG_012255.2:g.7575AT[16], NG_012255.2:g.7575AT[17], NG_012255.2:g.7575AT[18], NG_012255.2:g.7575AT[19], NG_012255.2:g.7575AT[20], NG_012255.2:g.7575AT[21]

Select item 14914180967.

rs1491418096 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:67669824 (GRCh38)
11:67437295 (GRCh37)
Canonical SPDI:: NC_000011.10:67669822:TAT:T
Gene:: ALDH3B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.67669824_67669825del, NC_000011.9:g.67437295_67437296del, NG_012255.2:g.16401_16402del

Select item 14912403818.

rs1491240381 has merged into rs59262273 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 11:67672162 (GRCh38)
11:67439633 (GRCh37)
Canonical SPDI:: NC_000011.10:67672148:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:67672148:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:67672148:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:67672148:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:67672148:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:67672148:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: ALDH3B2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.259/1297 (1000Genomes)
T=0.2895/11 (GENOME_DK)
HGVS:: NC_000011.10:g.67672162_67672164del, NC_000011.10:g.67672163_67672164del, NC_000011.10:g.67672164del, NC_000011.10:g.67672164dup, NC_000011.10:g.67672163_67672164dup, NC_000011.10:g.67672162_67672164dup, NC_000011.9:g.67439633_67439635del, NC_000011.9:g.67439634_67439635del, NC_000011.9:g.67439635del, NC_000011.9:g.67439635dup, NC_000011.9:g.67439634_67439635dup, NC_000011.9:g.67439633_67439635dup, NG_012255.2:g.14074_14076del, NG_012255.2:g.14075_14076del, NG_012255.2:g.14076del, NG_012255.2:g.14076dup, NG_012255.2:g.14075_14076dup, NG_012255.2:g.14074_14076dup

Select item 14910004089.

rs1491000408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:67672122 (GRCh38)
11:67439593 (GRCh37)
Canonical SPDI:: NC_000011.10:67672121:G:A
Gene:: ALDH3B2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000011.10:g.67672122G>A, NC_000011.9:g.67439593G>A, NG_012255.2:g.14103C>T

Select item 149095681710.

rs1490956817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67674408 (GRCh38)
11:67441879 (GRCh37)
Canonical SPDI:: NC_000011.10:67674407:C:T
Gene:: ALDH3B2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.67674408C>T, NC_000011.9:g.67441879C>T, NG_012255.2:g.11817G>A

Select item 149094938711.

rs1490949387 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:67670852 (GRCh38)
11:67438323 (GRCh37)
Canonical SPDI:: NC_000011.10:67670851:T:C
Gene:: ALDH3B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.67670852T>C, NC_000011.9:g.67438323T>C, NG_012255.2:g.15373A>G

Select item 149081445112.

rs1490814451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:67677433 (GRCh38)
11:67444904 (GRCh37)
Canonical SPDI:: NC_000011.10:67677432:C:G
Gene:: ALDH3B2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.67677433C>G, NC_000011.9:g.67444904C>G, NG_012255.2:g.8792G>C

Select item 149065889413.

rs1490658894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:67666362 (GRCh38)
11:67433833 (GRCh37)
Canonical SPDI:: NC_000011.10:67666361:C:G
Gene:: ALDH3B2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.67666362C>G, NC_000011.9:g.67433833C>G, NG_012255.2:g.19863G>C, NM_001354345.3:c.191G>C, NM_001354345.2:c.191G>C, NM_001354345.1:c.191G>C, NM_001031615.3:c.191G>C, NM_001031615.2:c.191G>C, NM_001031615.1:c.191G>C, NM_001393402.2:c.191G>C, NM_001393402.1:c.191G>C, NM_001393400.1:c.191G>C, NM_001393401.1:c.191G>C, NM_000695.3:c.191G>C, XM_047426562.1:c.191G>C, XM_047426563.1:c.191G>C, XM_047426561.1:c.191G>C, XM_047426564.1:c.191G>C, XM_047426565.1:c.191G>C, NP_001341274.2:p.Gly64Ala, NP_001026786.3:p.Gly64Ala, NP_001380331.1:p.Gly64Ala, NP_001380329.1:p.Gly64Ala, NP_001380330.1:p.Gly64Ala, XP_047282518.1:p.Gly64Ala, XP_047282519.1:p.Gly64Ala, XP_047282517.1:p.Gly64Ala, XP_047282520.1:p.Gly64Ala, XP_047282521.1:p.Gly64Ala

Select item 149052120314.

rs1490521203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:67666412 (GRCh38)
11:67433883 (GRCh37)
Canonical SPDI:: NC_000011.10:67666411:A:G
Gene:: ALDH3B2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.67666412A>G, NC_000011.9:g.67433883A>G, NG_012255.2:g.19813T>C

Select item 149039149715.

rs1490391497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:67671135 (GRCh38)
11:67438606 (GRCh37)
Canonical SPDI:: NC_000011.10:67671134:G:A,NC_000011.10:67671134:G:C
Gene:: ALDH3B2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.67671135G>A, NC_000011.10:g.67671135G>C, NC_000011.9:g.67438606G>A, NC_000011.9:g.67438606G>C, NG_012255.2:g.15090C>T, NG_012255.2:g.15090C>G, XM_047426562.1:c.-317C>T, XM_047426562.1:c.-317C>G

Select item 149021507416.

rs1490215074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:67664417 (GRCh38)
11:67431888 (GRCh37)
Canonical SPDI:: NC_000011.10:67664416:G:A,NC_000011.10:67664416:G:C
Gene:: ALDH3B2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000045/2 (ALFA)
A=0.000019/5 (TOPMED)
A=0.001027/3 (KOREAN)
HGVS:: NC_000011.10:g.67664417G>A, NC_000011.10:g.67664417G>C, NC_000011.9:g.67431888G>A, NC_000011.9:g.67431888G>C, NG_012255.2:g.21808C>T, NG_012255.2:g.21808C>G, NM_001354345.3:c.852C>T, NM_001354345.3:c.852C>G, NM_001354345.2:c.852C>T, NM_001354345.2:c.852C>G, NM_001354345.1:c.852C>T, NM_001354345.1:c.852C>G, NM_001031615.3:c.852C>T, NM_001031615.3:c.852C>G, NM_001031615.2:c.852C>T, NM_001031615.2:c.852C>G, NM_001031615.1:c.852C>T, NM_001031615.1:c.852C>G, NM_001393402.2:c.852C>T, NM_001393402.2:c.852C>G, NM_001393402.1:c.852C>T, NM_001393402.1:c.852C>G, NM_001393400.1:c.852C>T, NM_001393400.1:c.852C>G, NM_001393401.1:c.852C>T, NM_001393401.1:c.852C>G, NM_000695.3:c.852C>T, NM_000695.3:c.852C>G, XM_047426562.1:c.852C>T, XM_047426562.1:c.852C>G, XM_047426563.1:c.852C>T, XM_047426563.1:c.852C>G, XM_047426561.1:c.852C>T, XM_047426561.1:c.852C>G, XM_047426564.1:c.852C>T, XM_047426564.1:c.852C>G, XM_047426565.1:c.852C>T, XM_047426565.1:c.852C>G, NP_001341274.2:p.Tyr284Ter, NP_001026786.3:p.Tyr284Ter, NP_001380331.1:p.Tyr284Ter, NP_001380329.1:p.Tyr284Ter, NP_001380330.1:p.Tyr284Ter, XP_047282518.1:p.Tyr284Ter, XP_047282519.1:p.Tyr284Ter, XP_047282517.1:p.Tyr284Ter, XP_047282520.1:p.Tyr284Ter, XP_047282521.1:p.Tyr284Ter

Select item 149006580717.

rs1490065807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:67670343 (GRCh38)
11:67437814 (GRCh37)
Canonical SPDI:: NC_000011.10:67670342:G:C
Gene:: ALDH3B2 (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_000011.10:g.67670343G>C, NC_000011.9:g.67437814G>C, NG_012255.2:g.15882C>G

Select item 148983581918.

rs1489835819 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 11:67666746 (GRCh38)
11:67434217 (GRCh37)
Canonical SPDI:: NC_000011.10:67666745:A:C,NC_000011.10:67666745:A:T
Gene:: ALDH3B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.67666746A>C, NC_000011.10:g.67666746A>T, NC_000011.9:g.67434217A>C, NC_000011.9:g.67434217A>T, NG_012255.2:g.19479T>G, NG_012255.2:g.19479T>A

Select item 148927436219.

rs1489274362 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:67668040 (GRCh38)
11:67435511 (GRCh37)
Canonical SPDI:: NC_000011.10:67668039:A:G
Gene:: ALDH3B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.67668040A>G, NC_000011.9:g.67435511A>G, NG_012255.2:g.18185T>C

Select item 148925776320.

rs1489257763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:67674706 (GRCh38)
11:67442177 (GRCh37)
Canonical SPDI:: NC_000011.10:67674705:C:A
Gene:: ALDH3B2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000671/3 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000011.10:g.67674706C>A, NC_000011.9:g.67442177C>A, NG_012255.2:g.11519G>T, NM_001354345.3:c.-428G>T, NM_001354345.2:c.-429G>T, NM_001354345.1:c.-429G>T, NM_001393400.1:c.-258G>T, XM_047426561.1:c.-429G>T, XM_047426565.1:c.-258G>T

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