SNP Links for Gene (Select 105379306) - SNP

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Select item 14914938911.

rs1491493891 has merged into rs11291952 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAAAAAA [Show Flanks]
Chromosome:: 8:19305093 (GRCh38)
8:19162604 (GRCh37)
Canonical SPDI:: NC_000008.11:19305084:AAAAAAAAAA:AAAAAAAA,NC_000008.11:19305084:AAAAAAAAAA:AAAAAAAAA,NC_000008.11:19305084:AAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:19305084:AAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.1658/742 (Estonian)
A=0.1859/931 (1000Genomes)
A=0.2047/789 (ALSPAC)
A=0.2085/773 (TWINSUK)
A=0.2217/133 (NorthernSweden)
HGVS:: NC_000008.11:g.19305093_19305094del, NC_000008.11:g.19305094del, NC_000008.11:g.19305094dup, NC_000008.11:g.19305089_19305094dup, NC_000008.10:g.19162604_19162605del, NC_000008.10:g.19162605del, NC_000008.10:g.19162605dup, NC_000008.10:g.19162600_19162605dup

Select item 14914374982.

rs1491437498 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:19311469 (GRCh38)
8:19168980 (GRCh37)
Canonical SPDI:: NC_000008.11:19311467:ACA:A
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001686/20 (ALFA)
-=0.000922/15 (TOMMO)
-=0.002661/294 (GnomAD)
HGVS:: NC_000008.11:g.19311469_19311470del, NC_000008.10:g.19168980_19168981del

Select item 14913797383.

rs1491379738 has merged into rs146932294 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:19308200 (GRCh38)
8:19165711 (GRCh37)
Canonical SPDI:: NC_000008.11:19308189:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:19308189:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:19308189:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:19308189:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:19308189:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:19308189:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:19308189:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:19308189:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:19308189:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:19308189:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:19308189:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19308189:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19308189:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.3167/1586 (1000Genomes)
HGVS:: NC_000008.11:g.19308200_19308209del, NC_000008.11:g.19308201_19308209del, NC_000008.11:g.19308202_19308209del, NC_000008.11:g.19308203_19308209del, NC_000008.11:g.19308204_19308209del, NC_000008.11:g.19308205_19308209del, NC_000008.11:g.19308206_19308209del, NC_000008.11:g.19308207_19308209del, NC_000008.11:g.19308208_19308209del, NC_000008.11:g.19308209del, NC_000008.11:g.19308209dup, NC_000008.11:g.19308208_19308209dup, NC_000008.11:g.19308207_19308209dup, NC_000008.10:g.19165711_19165720del, NC_000008.10:g.19165712_19165720del, NC_000008.10:g.19165713_19165720del, NC_000008.10:g.19165714_19165720del, NC_000008.10:g.19165715_19165720del, NC_000008.10:g.19165716_19165720del, NC_000008.10:g.19165717_19165720del, NC_000008.10:g.19165718_19165720del, NC_000008.10:g.19165719_19165720del, NC_000008.10:g.19165720del, NC_000008.10:g.19165720dup, NC_000008.10:g.19165719_19165720dup, NC_000008.10:g.19165718_19165720dup

Select item 14913789804.

rs1491378980 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 8:19302182 (GRCh38)
8:19159693 (GRCh37)
Canonical SPDI:: NC_000008.11:19302181:GGG:GG
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000008.11:g.19302184del, NC_000008.10:g.19159695del

Select item 14912686425.

rs1491268642 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAAGGGAA [Show Flanks]
Chromosome:: 8:19302186 (GRCh38)
8:19159698 (GRCh37)
Canonical SPDI:: NC_000008.11:19302186:GGAA:GGAAAGAAGGGAA
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GGAAAGAAG=0.00002/1 (GnomAD)
HGVS:: NC_000008.11:g.19302190_19302191insAGAAGGGAA, NC_000008.10:g.19159701_19159702insAGAAGGGAA

Select item 14912165646.

rs1491216564 [Homo sapiens]

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

Select item 14911728087.

rs1491172808 has merged into rs72121888 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGAAGGAAGGA>-,AGGA,AGGAAGGA,AGGAAGGAAGGAAGGA [Show Flanks]
Chromosome:: 8:19302194 (GRCh38)
8:19159705 (GRCh37)
Canonical SPDI:: NC_000008.11:19302182:GGAAGGAAGGAAGGAAGGAAGGA:GGAAGGAAGGA,NC_000008.11:19302182:GGAAGGAAGGAAGGAAGGAAGGA:GGAAGGAAGGAAGGA,NC_000008.11:19302182:GGAAGGAAGGAAGGAAGGAAGGA:GGAAGGAAGGAAGGAAGGA,NC_000008.11:19302182:GGAAGGAAGGAAGGAAGGAAGGA:GGAAGGAAGGAAGGAAGGAAGGAAGGA
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAAGGAAGGAAGGA=0./0 (ALFA)
-=0.0003/1 (ALSPAC)
GGAA=0.2685/480 (Korea1K)
-=0.3492/206 (NorthernSweden)
-=0.375/15 (GENOME_DK)
-=0.4028/402 (GoNL)
GGAA=0.4972/2490 (1000Genomes)
HGVS:: NC_000008.11:g.19302186AGGA[2], NC_000008.11:g.19302186AGGA[3], NC_000008.11:g.19302186AGGA[4], NC_000008.11:g.19302186AGGA[6], NC_000008.10:g.19159697AGGA[2], NC_000008.10:g.19159697AGGA[3], NC_000008.10:g.19159697AGGA[4], NC_000008.10:g.19159697AGGA[6]

Select item 14911592868.

rs1491159286 [Homo sapiens]

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

Select item 14911387139.

rs1491138713 has merged into rs59840942 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:19311667 (GRCh38)
8:19169178 (GRCh37)
Canonical SPDI:: NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19311654:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.19311667_19311677del, NC_000008.11:g.19311670_19311677del, NC_000008.11:g.19311671_19311677del, NC_000008.11:g.19311672_19311677del, NC_000008.11:g.19311673_19311677del, NC_000008.11:g.19311674_19311677del, NC_000008.11:g.19311675_19311677del, NC_000008.11:g.19311676_19311677del, NC_000008.11:g.19311677del, NC_000008.11:g.19311677dup, NC_000008.11:g.19311676_19311677dup, NC_000008.11:g.19311675_19311677dup, NC_000008.11:g.19311674_19311677dup, NC_000008.11:g.19311673_19311677dup, NC_000008.11:g.19311672_19311677dup, NC_000008.11:g.19311670_19311677dup, NC_000008.10:g.19169178_19169188del, NC_000008.10:g.19169181_19169188del, NC_000008.10:g.19169182_19169188del, NC_000008.10:g.19169183_19169188del, NC_000008.10:g.19169184_19169188del, NC_000008.10:g.19169185_19169188del, NC_000008.10:g.19169186_19169188del, NC_000008.10:g.19169187_19169188del, NC_000008.10:g.19169188del, NC_000008.10:g.19169188dup, NC_000008.10:g.19169187_19169188dup, NC_000008.10:g.19169186_19169188dup, NC_000008.10:g.19169185_19169188dup, NC_000008.10:g.19169184_19169188dup, NC_000008.10:g.19169183_19169188dup, NC_000008.10:g.19169181_19169188dup

Select item 149109394810.

rs1491093948 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:19308189 (GRCh38)
8:19165700 (GRCh37)
Canonical SPDI:: NC_000008.11:19308188:CA:
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000008.11:g.19308189_19308190del, NC_000008.10:g.19165700_19165701del

Select item 149044709011.

rs1490447090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:19300533 (GRCh38)
8:19158044 (GRCh37)
Canonical SPDI:: NC_000008.11:19300532:C:G
Gene:: LOC105379306 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.19300533C>G, NC_000008.10:g.19158044C>G, XR_949550.3:n.11C>G, XR_949550.2:n.11C>G, XR_949550.1:n.11C>G

Select item 149036082312.

rs1490360823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:19307076 (GRCh38)
8:19164587 (GRCh37)
Canonical SPDI:: NC_000008.11:19307075:T:C
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.19307076T>C, NC_000008.10:g.19164587T>C

Select item 149033683313.

rs1490336833 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19309146 (GRCh38)
8:19166657 (GRCh37)
Canonical SPDI:: NC_000008.11:19309145:A:G
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.19309146A>G, NC_000008.10:g.19166657A>G

Select item 149029875114.

rs1490298751 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:19303277 (GRCh38)
8:19160788 (GRCh37)
Canonical SPDI:: NC_000008.11:19303276:T:C
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_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_000008.11:g.19303277T>C, NC_000008.10:g.19160788T>C

Select item 148991141515.

rs1489911415 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 8:19303642 (GRCh38)
8:19161153 (GRCh37)
Canonical SPDI:: NC_000008.11:19303641:T:
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.19303642del, NC_000008.10:g.19161153del

Select item 148956253216.

rs1489562532 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:19306611 (GRCh38)
8:19164122 (GRCh37)
Canonical SPDI:: NC_000008.11:19306610:TTT:TT
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.19306613del, NC_000008.10:g.19164124del

Select item 148943239317.

rs1489432393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:19301942 (GRCh38)
8:19159453 (GRCh37)
Canonical SPDI:: NC_000008.11:19301941:G:A,NC_000008.11:19301941:G:T
Gene:: LOC105379306 (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)
T=0.000072/1 (TOMMO)
HGVS:: NC_000008.11:g.19301942G>A, NC_000008.11:g.19301942G>T, NC_000008.10:g.19159453G>A, NC_000008.10:g.19159453G>T

Select item 148933589818.

rs1489335898 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19308516 (GRCh38)
8:19166027 (GRCh37)
Canonical SPDI:: NC_000008.11:19308515:A:G
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.19308516A>G, NC_000008.10:g.19166027A>G

Select item 148904510419.

rs1489045104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:19307888 (GRCh38)
8:19165399 (GRCh37)
Canonical SPDI:: NC_000008.11:19307887:C:A,NC_000008.11:19307887:C:G,NC_000008.11:19307887:C:T
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.19307888C>A, NC_000008.11:g.19307888C>G, NC_000008.11:g.19307888C>T, NC_000008.10:g.19165399C>A, NC_000008.10:g.19165399C>G, NC_000008.10:g.19165399C>T

Select item 148899451120.

rs1488994511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:19307146 (GRCh38)
8:19164657 (GRCh37)
Canonical SPDI:: NC_000008.11:19307145:T:A
Gene:: LOC105379306 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000169/2 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.19307146T>A, NC_000008.10:g.19164657T>A

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