SNP Links for Gene (Select 100131320) - SNP

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Select item 14915440031.

rs1491544003 has merged into rs55809232 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 2:129974841 (GRCh38)
2:130732414 (GRCh37)
Canonical SPDI:: NC_000002.12:129974828:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:129974828:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:129974828:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:129974828:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:129974828:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:129974828:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:129974828:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: RAB6C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.4724/2366 (1000Genomes)
HGVS:: NC_000002.12:g.129974841_129974844del, NC_000002.12:g.129974842_129974844del, NC_000002.12:g.129974843_129974844del, NC_000002.12:g.129974844del, NC_000002.12:g.129974844dup, NC_000002.12:g.129974843_129974844dup, NC_000002.12:g.129974842_129974844dup, NC_000002.11:g.130732414_130732417del, NC_000002.11:g.130732415_130732417del, NC_000002.11:g.130732416_130732417del, NC_000002.11:g.130732417del, NC_000002.11:g.130732417dup, NC_000002.11:g.130732416_130732417dup, NC_000002.11:g.130732415_130732417dup, NW_025791762.1:g.147083_147086del, NW_025791762.1:g.147084_147086del, NW_025791762.1:g.147085_147086del, NW_025791762.1:g.147086del, NW_025791762.1:g.147086dup, NW_025791762.1:g.147085_147086dup, NW_025791762.1:g.147084_147086dup

Select item 14913934812.

rs1491393481 has merged into rs1169320387 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:129971028 (GRCh38)
2:130728601 (GRCh37)
Canonical SPDI:: NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB6C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.129971028_129971037del, NC_000002.12:g.129971030_129971037del, NC_000002.12:g.129971031_129971037del, NC_000002.12:g.129971032_129971037del, NC_000002.12:g.129971033_129971037del, NC_000002.12:g.129971034_129971037del, NC_000002.12:g.129971035_129971037del, NC_000002.12:g.129971036_129971037del, NC_000002.12:g.129971037del, NC_000002.12:g.129971037dup, NC_000002.12:g.129971036_129971037dup, NC_000002.12:g.129971035_129971037dup, NC_000002.12:g.129971034_129971037dup, NC_000002.12:g.129971033_129971037dup, NC_000002.12:g.129971032_129971037dup, NC_000002.12:g.129971031_129971037dup, NC_000002.12:g.129971030_129971037dup, NC_000002.11:g.130728601_130728610del, NC_000002.11:g.130728603_130728610del, NC_000002.11:g.130728604_130728610del, NC_000002.11:g.130728605_130728610del, NC_000002.11:g.130728606_130728610del, NC_000002.11:g.130728607_130728610del, NC_000002.11:g.130728608_130728610del, NC_000002.11:g.130728609_130728610del, NC_000002.11:g.130728610del, NC_000002.11:g.130728610dup, NC_000002.11:g.130728609_130728610dup, NC_000002.11:g.130728608_130728610dup, NC_000002.11:g.130728607_130728610dup, NC_000002.11:g.130728606_130728610dup, NC_000002.11:g.130728605_130728610dup, NC_000002.11:g.130728604_130728610dup, NC_000002.11:g.130728603_130728610dup, NW_025791762.1:g.143270_143279del, NW_025791762.1:g.143272_143279del, NW_025791762.1:g.143273_143279del, NW_025791762.1:g.143274_143279del, NW_025791762.1:g.143275_143279del, NW_025791762.1:g.143276_143279del, NW_025791762.1:g.143277_143279del, NW_025791762.1:g.143278_143279del, NW_025791762.1:g.143279del, NW_025791762.1:g.143279dup, NW_025791762.1:g.143278_143279dup, NW_025791762.1:g.143277_143279dup, NW_025791762.1:g.143276_143279dup, NW_025791762.1:g.143275_143279dup, NW_025791762.1:g.143274_143279dup, NW_025791762.1:g.143273_143279dup, NW_025791762.1:g.143272_143279dup

Select item 14913817403.

rs1491381740 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:129969952 (GRCh38)
2:130727526 (GRCh37)
Canonical SPDI:: NC_000002.12:129969952::G
Gene:: RAB6C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.129969952_129969953insG, NC_000002.11:g.130727525_130727526insG, NW_025791762.1:g.142194_142195insG

Select item 14912770424.

rs1491277042 [Homo sapiens]

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

Select item 14912394345.

rs1491239434 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:129974140 (GRCh38)
2:130731714 (GRCh37)
Canonical SPDI:: NC_000002.12:129974140::A
Gene:: RAB6C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.129974140_129974141insA, NC_000002.11:g.130731713_130731714insA, NW_025791762.1:g.146382_146383insA

Select item 14912031136.

rs1491203113 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:129971017 (GRCh38)
2:130728590 (GRCh37)
Canonical SPDI:: NC_000002.12:129971016:CA:
Gene:: RAB6C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00051/6 (ALFA)
-=0.00082/13 (TOMMO)
HGVS:: NC_000002.12:g.129971017_129971018del, NC_000002.11:g.130728590_130728591del, NW_025791762.1:g.143259_143260del

Select item 14911970817.

rs1491197081 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:129974828 (GRCh38)
2:130732401 (GRCh37)
Canonical SPDI:: NC_000002.12:129974827:CA:
Gene:: RAB6C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.129974828_129974829del, NC_000002.11:g.130732401_130732402del, NW_025791762.1:g.147070_147071del

Select item 14911489768.

rs1491148976 has merged into rs113088633 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 2:129974152 (GRCh38)
2:130731725 (GRCh37)
Canonical SPDI:: NC_000002.12:129974139:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:129974139:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:129974139:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:129974139:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:129974139:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:129974139:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:129974139:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: RAB6C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.02/12 (NorthernSweden)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000002.12:g.129974152_129974155del, NC_000002.12:g.129974153_129974155del, NC_000002.12:g.129974154_129974155del, NC_000002.12:g.129974155del, NC_000002.12:g.129974155dup, NC_000002.12:g.129974154_129974155dup, NC_000002.12:g.129974153_129974155dup, NC_000002.11:g.130731725_130731728del, NC_000002.11:g.130731726_130731728del, NC_000002.11:g.130731727_130731728del, NC_000002.11:g.130731728del, NC_000002.11:g.130731728dup, NC_000002.11:g.130731727_130731728dup, NC_000002.11:g.130731726_130731728dup, NW_025791762.1:g.146394_146397del, NW_025791762.1:g.146395_146397del, NW_025791762.1:g.146396_146397del, NW_025791762.1:g.146397del, NW_025791762.1:g.146397dup, NW_025791762.1:g.146396_146397dup, NW_025791762.1:g.146395_146397dup

Select item 14910927509.

rs1491092750 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:129971516 (GRCh38)
2:130729090 (GRCh37)
Canonical SPDI:: NC_000002.12:129971516::G
Gene:: RAB6C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000212/4 (TOMMO)
G=0.000457/55 (GnomAD)
G=0.000625/4 (1000Genomes)
G=0.001667/1 (NorthernSweden)
HGVS:: NC_000002.12:g.129971516_129971517insG, NC_000002.11:g.130729089_130729090insG, NW_025791762.1:g.143758_143759insG

Select item 149106716910.

rs1491067169 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:129974843 (GRCh38)
2:130732417 (GRCh37)
Canonical SPDI:: NC_000002.12:129974843::G
Gene:: RAB6C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000022/3 (GnomAD)
HGVS:: NC_000002.12:g.129974843_129974844insG, NC_000002.11:g.130732416_130732417insG, NW_025791762.1:g.147085_147086insG

Select item 149087330311.

rs1490873303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:129967879 (GRCh38)
2:130725452 (GRCh37)
Canonical SPDI:: NC_000002.12:129967878:A:G
Gene:: RAB6C-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.129967879A>G, NC_000002.11:g.130725452A>G, NW_025791762.1:g.140121A>G, NR_036537.1:n.1173T>C

Select item 149085487412.

rs1490854874 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:129981687 (GRCh38)
2:130739260 (GRCh37)
Canonical SPDI:: NC_000002.12:129981686:T:
Gene:: RAB6C (Varview), RAB6C-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000164/23 (GnomAD)
-=0.000178/47 (TOPMED)
HGVS:: NC_000002.12:g.129981687del, NC_000002.11:g.130739260del, NW_025791762.1:g.153929del, NM_032144.3:c.*807del, NM_032144.2:c.*807del

Select item 149082905213.

rs1490829052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:129979412 (GRCh38)
2:130736985 (GRCh37)
Canonical SPDI:: NC_000002.12:129979411:C:T
Gene:: RAB6C (Varview), RAB6C-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000002.12:g.129979412C>T, NC_000002.11:g.130736985C>T, NW_025791762.1:g.151654C>T

Select item 149068525214.

rs1490685252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:129975458 (GRCh38)
2:130733031 (GRCh37)
Canonical SPDI:: NC_000002.12:129975457:A:G
Gene:: RAB6C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.129975458A>G, NC_000002.11:g.130733031A>G, NW_025791762.1:g.147700A>G

Select item 149064422615.

rs1490644226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:129982178 (GRCh38)
2:130739751 (GRCh37)
Canonical SPDI:: NC_000002.12:129982177:C:T
Gene:: RAB6C (Varview), RAB6C-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.129982178C>T, NC_000002.11:g.130739751C>T, NW_025791762.1:g.154420C>T, NM_032144.3:c.*1298C>T, NM_032144.2:c.*1298C>T

Select item 149056758116.

rs1490567581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:129976673 (GRCh38)
2:130734246 (GRCh37)
Canonical SPDI:: NC_000002.12:129976672:C:A,NC_000002.12:129976672:C:T
Gene:: RAB6C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.129976673C>A, NC_000002.12:g.129976673C>T, NC_000002.11:g.130734246C>A, NC_000002.11:g.130734246C>T, NW_025791762.1:g.148915C>A, NW_025791762.1:g.148915C>T

Select item 149041318317.

rs1490413183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:129966401 (GRCh38)
2:130723974 (GRCh37)
Canonical SPDI:: NC_000002.12:129966400:T:C
Gene:: RAB6C-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.129966401T>C, NC_000002.11:g.130723974T>C, NW_025791762.1:g.138643T>C

Select item 149029531218.

rs1490295312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:129973826 (GRCh38)
2:130731399 (GRCh37)
Canonical SPDI:: NC_000002.12:129973825:G:A
Gene:: RAB6C-AS1 (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_000002.12:g.129973826G>A, NC_000002.11:g.130731399G>A, NW_025791762.1:g.146068G>A

Select item 148987378419.

rs1489873784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:129980753 (GRCh38)
2:130738326 (GRCh37)
Canonical SPDI:: NC_000002.12:129980752:C:T
Gene:: RAB6C (Varview), RAB6C-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.129980753C>T, NC_000002.11:g.130738326C>T, NW_025791762.1:g.152995C>T, NM_032144.3:c.638C>T, NM_032144.2:c.638C>T, NP_115520.2:p.Ser213Leu

Select item 148928171420.

rs1489281714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:129972295 (GRCh38)
2:130729868 (GRCh37)
Canonical SPDI:: NC_000002.12:129972294:T:C
Gene:: RAB6C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.129972295T>C, NC_000002.11:g.130729868T>C, NW_025791762.1:g.144537T>C

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