SNP Links for Gene (Select 10840) - SNP

Links from Gene

Items: 1 to 20 of 17963

<< First< Prev

Page of 899

Next >Last >>

Select item 14915542521.

rs1491554252 [Homo sapiens]

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

Select item 14913668992.

rs1491366899 has merged into rs10652286 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:126123648 (GRCh38)
3:125842491 (GRCh37)
Canonical SPDI:: NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126123635:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ALDH1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.2841/1423 (1000Genomes)
HGVS:: NC_000003.12:g.126123648_126123649del, NC_000003.12:g.126123649del, NC_000003.12:g.126123649dup, NC_000003.12:g.126123648_126123649dup, NC_000003.12:g.126123647_126123649dup, NC_000003.12:g.126123646_126123649dup, NC_000003.12:g.126123645_126123649dup, NC_000003.12:g.126123644_126123649dup, NC_000003.12:g.126123643_126123649dup, NC_000003.12:g.126123642_126123649dup, NC_000003.12:g.126123641_126123649dup, NC_000003.12:g.126123640_126123649dup, NC_000003.12:g.126123636_126123649dup, NC_000003.12:g.126123649_126123650insAAAAAAAAAAAAAAA, NC_000003.12:g.126123649_126123650insAAAAAAAAAAAAAAAA, NC_000003.12:g.126123649_126123650insAAAAAAAAAAAAAAAAA, NC_000003.11:g.125842491_125842492del, NC_000003.11:g.125842492del, NC_000003.11:g.125842492dup, NC_000003.11:g.125842491_125842492dup, NC_000003.11:g.125842490_125842492dup, NC_000003.11:g.125842489_125842492dup, NC_000003.11:g.125842488_125842492dup, NC_000003.11:g.125842487_125842492dup, NC_000003.11:g.125842486_125842492dup, NC_000003.11:g.125842485_125842492dup, NC_000003.11:g.125842484_125842492dup, NC_000003.11:g.125842483_125842492dup, NC_000003.11:g.125842479_125842492dup, NC_000003.11:g.125842492_125842493insAAAAAAAAAAAAAAA, NC_000003.11:g.125842492_125842493insAAAAAAAAAAAAAAAA, NC_000003.11:g.125842492_125842493insAAAAAAAAAAAAAAAAA, NG_012260.1:g.62006_62007del, NG_012260.1:g.62007del, NG_012260.1:g.62007dup, NG_012260.1:g.62006_62007dup, NG_012260.1:g.62005_62007dup, NG_012260.1:g.62004_62007dup, NG_012260.1:g.62003_62007dup, NG_012260.1:g.62002_62007dup, NG_012260.1:g.62001_62007dup, NG_012260.1:g.62000_62007dup, NG_012260.1:g.61999_62007dup, NG_012260.1:g.61998_62007dup, NG_012260.1:g.61994_62007dup, NG_012260.1:g.62007_62008insTTTTTTTTTTTTTTT, NG_012260.1:g.62007_62008insTTTTTTTTTTTTTTTT, NG_012260.1:g.62007_62008insTTTTTTTTTTTTTTTTT

Select item 14912874833.

rs1491287483 has merged into rs34367231 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATATAT [Show Flanks]
Chromosome:: 3:126161947 (GRCh38)
3:125880790 (GRCh37)
Canonical SPDI:: NC_000003.12:126161934:ATATATATATATAT:ATATATATATAT,NC_000003.12:126161934:ATATATATATATAT:ATATATATATATATAT,NC_000003.12:126161934:ATATATATATATAT:ATATATATATATATATAT,NC_000003.12:126161934:ATATATATATATAT:ATATATATATATATATATAT,NC_000003.12:126161934:ATATATATATATAT:ATATATATATATATATATATAT,NC_000003.12:126161934:ATATATATATATAT:ATATATATATATATATATATATAT,NC_000003.12:126161934:ATATATATATATAT:ATATATATATATATATATATATATAT,NC_000003.12:126161934:ATATATATATATAT:ATATATATATATATATATATATATATATAT
Gene:: ALDH1L1 (Varview), LOC105374083 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATAT=0./0 (ALFA)
ATAT=0.4545/2276 (1000Genomes)
-=0.4823/2020 (Estonian)
HGVS:: NC_000003.12:g.126161935AT[6], NC_000003.12:g.126161935AT[8], NC_000003.12:g.126161935AT[9], NC_000003.12:g.126161935AT[10], NC_000003.12:g.126161935AT[11], NC_000003.12:g.126161935AT[12], NC_000003.12:g.126161935AT[13], NC_000003.12:g.126161935AT[15], NC_000003.11:g.125880778AT[6], NC_000003.11:g.125880778AT[8], NC_000003.11:g.125880778AT[9], NC_000003.11:g.125880778AT[10], NC_000003.11:g.125880778AT[11], NC_000003.11:g.125880778AT[12], NC_000003.11:g.125880778AT[13], NC_000003.11:g.125880778AT[15], NG_012260.1:g.23695AT[6], NG_012260.1:g.23695AT[8], NG_012260.1:g.23695AT[9], NG_012260.1:g.23695AT[10], NG_012260.1:g.23695AT[11], NG_012260.1:g.23695AT[12], NG_012260.1:g.23695AT[13], NG_012260.1:g.23695AT[15]

Select item 14912497354.

rs1491249735 [Homo sapiens]

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

Select item 14912194385.

rs1491219438 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:126126541 (GRCh38)
3:125845384 (GRCh37)
Canonical SPDI:: NC_000003.12:126126540:AG:
Gene:: ALDH1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.126126541_126126542del, NC_000003.11:g.125845384_125845385del, NG_012260.1:g.59101_59102del

Select item 14911706926.

rs1491170692 has merged into rs1440926161 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 3:126126542 (GRCh38)
3:125845385 (GRCh37)
Canonical SPDI:: NC_000003.12:126126541:GGGGGG:GGGGG,NC_000003.12:126126541:GGGGGG:GGGGGGG
Gene:: ALDH1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.126126547del, NC_000003.12:g.126126547dup, NC_000003.11:g.125845390del, NC_000003.11:g.125845390dup, NG_012260.1:g.59101del, NG_012260.1:g.59101dup

Select item 14911341177.

rs1491134117 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:126138294 (GRCh38)
3:125857138 (GRCh37)
Canonical SPDI:: NC_000003.12:126138294::A
Gene:: ALDH1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000003.12:g.126138294_126138295insA, NC_000003.11:g.125857137_125857138insA, NG_012260.1:g.47348_47349insT

Select item 14911280548.

rs1491128054 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:126178380 (GRCh38)
3:125897223 (GRCh37)
Canonical SPDI:: NC_000003.12:126178379:CA:
Gene:: ALDH1L1 (Varview), ALDH1L1-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00194/23 (ALFA)
-=0.00218/59 (TOMMO)
HGVS:: NC_000003.12:g.126178380_126178381del, NC_000003.11:g.125897223_125897224del, NG_012260.1:g.7262_7263del

Select item 14910613069.

rs1491061306 has merged into rs112510826 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 3:126178762 (GRCh38)
3:125897605 (GRCh37)
Canonical SPDI:: NC_000003.12:126178746:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000003.12:126178746:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000003.12:126178746:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000003.12:126178746:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:126178746:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:126178746:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:126178746:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:126178746:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:126178746:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ALDH1L1 (Varview), ALDH1L1-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTGTGTGTG=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.126178748GT[7], NC_000003.12:g.126178748GT[8], NC_000003.12:g.126178748GT[9], NC_000003.12:g.126178748GT[11], NC_000003.12:g.126178748GT[12], NC_000003.12:g.126178748GT[13], NC_000003.12:g.126178748GT[14], NC_000003.12:g.126178748GT[15], NC_000003.12:g.126178748GT[16], NC_000003.11:g.125897591GT[7], NC_000003.11:g.125897591GT[8], NC_000003.11:g.125897591GT[9], NC_000003.11:g.125897591GT[11], NC_000003.11:g.125897591GT[12], NC_000003.11:g.125897591GT[13], NC_000003.11:g.125897591GT[14], NC_000003.11:g.125897591GT[15], NC_000003.11:g.125897591GT[16], NG_012260.1:g.6877CA[7], NG_012260.1:g.6877CA[8], NG_012260.1:g.6877CA[9], NG_012260.1:g.6877CA[11], NG_012260.1:g.6877CA[12], NG_012260.1:g.6877CA[13], NG_012260.1:g.6877CA[14], NG_012260.1:g.6877CA[15], NG_012260.1:g.6877CA[16]

Select item 149106073710.

rs1491060737 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:126183223 (GRCh38)
3:125902066 (GRCh37)
Canonical SPDI:: NC_000003.12:126183222:AA:
Gene:: ALDH1L1 (Varview), ALDH1L1-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126183223_126183224del, NC_000003.11:g.125902066_125902067del, NG_012260.1:g.2419_2420del

Select item 149092730711.

rs1490927307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126165769 (GRCh38)
3:125884612 (GRCh37)
Canonical SPDI:: NC_000003.12:126165768:G:A
Gene:: ALDH1L1 (Varview), LOC105374083 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126165769G>A, NC_000003.11:g.125884612G>A, NG_012260.1:g.19874C>T

Select item 149092235012.

rs1490922350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126169233 (GRCh38)
3:125888076 (GRCh37)
Canonical SPDI:: NC_000003.12:126169232:G:A
Gene:: ALDH1L1 (Varview), LOC105374083 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.126169233G>A, NC_000003.11:g.125888076G>A, NG_012260.1:g.16410C>T

Select item 149091211413.

rs1490912114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:126167167 (GRCh38)
3:125886010 (GRCh37)
Canonical SPDI:: NC_000003.12:126167166:C:G,NC_000003.12:126167166:C:T
Gene:: ALDH1L1 (Varview), LOC105374083 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126167167C>G, NC_000003.12:g.126167167C>T, NC_000003.11:g.125886010C>G, NC_000003.11:g.125886010C>T, NG_012260.1:g.18476G>C, NG_012260.1:g.18476G>A

Select item 149084727214.

rs1490847272 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:126135767 (GRCh38)
3:125854610 (GRCh37)
Canonical SPDI:: NC_000003.12:126135766:CT:
Gene:: ALDH1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126135767_126135768del, NC_000003.11:g.125854610_125854611del, NG_012260.1:g.49875_49876del

Select item 149079629015.

rs1490796290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:126115012 (GRCh38)
3:125833855 (GRCh37)
Canonical SPDI:: NC_000003.12:126115011:C:T
Gene:: ALDH1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126115012C>T, NC_000003.11:g.125833855C>T, NG_012260.1:g.70631G>A

Select item 149076581316.

rs1490765813 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:126142047 (GRCh38)
3:125860890 (GRCh37)
Canonical SPDI:: NC_000003.12:126142046:T:C
Gene:: ALDH1L1 (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_000003.12:g.126142047T>C, NC_000003.11:g.125860890T>C, NG_012260.1:g.43596A>G

Select item 149070120017.

rs1490701200 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:126158608 (GRCh38)
3:125877451 (GRCh37)
Canonical SPDI:: NC_000003.12:126158607:T:C
Gene:: ALDH1L1 (Varview), LOC105374083 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126158608T>C, NC_000003.11:g.125877451T>C, NG_012260.1:g.27035A>G, NM_012190.4:c.159A>G, NM_012190.3:c.159A>G, NM_001270364.2:c.189A>G, NM_001270364.1:c.189A>G, NR_072979.2:n.293A>G, NR_072979.1:n.509A>G, NM_001270365.2:c.159A>G, NM_001270365.1:c.159A>G, XM_006713481.4:c.159A>G, XM_006713481.3:c.159A>G, XM_006713481.2:c.159A>G, XM_006713481.1:c.159A>G, XM_017005613.3:c.189A>G, XM_017005613.2:c.189A>G, XM_017005613.1:c.189A>G, XM_017005614.3:c.159A>G, XM_017005614.2:c.159A>G, XM_017005614.1:c.159A>G, XM_024453325.2:c.159A>G, XM_024453325.1:c.159A>G, XM_011512355.2:c.159A>G, XM_011512355.1:c.159A>G, NM_144776.1:c.159A>G

Select item 149068607518.

rs1490686075 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:126112768 (GRCh38)
3:125831611 (GRCh37)
Canonical SPDI:: NC_000003.12:126112767:GGGG:GGG
Gene:: ALDH1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
HGVS:: NC_000003.12:g.126112771del, NC_000003.11:g.125831614del, NG_012260.1:g.72875del

Select item 149066832319.

rs1490668323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:126127090 (GRCh38)
3:125845933 (GRCh37)
Canonical SPDI:: NC_000003.12:126127089:C:T
Gene:: ALDH1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.126127090C>T, NC_000003.11:g.125845933C>T, NG_012260.1:g.58553G>A

Select item 149066489020.

rs1490664890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:126183133 (GRCh38)
3:125901976 (GRCh37)
Canonical SPDI:: NC_000003.12:126183132:G:T
Gene:: ALDH1L1 (Varview), ALDH1L1-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.126183133G>T, NC_000003.11:g.125901976G>T, NG_012260.1:g.2510C>A

<< First< Prev

Page of 899

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 17963

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity