SNP Links for Gene (Select 225) - SNP

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Select item 14915317041.

rs1491531704 [Homo sapiens]

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

Select item 14913312222.

rs1491331222 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTTA,TTTTTA,TTTTTAA,TTTTTTA,TTTTTTGAAA,TTTTTTTA,TTTTTTTAA [Show Flanks]
Chromosome:: 12:39621115 (GRCh38)
12:40014918 (GRCh37)
Canonical SPDI:: NC_000012.12:39621115::TA,NC_000012.12:39621115::TTTA,NC_000012.12:39621115::TTTTTA,NC_000012.12:39621115::TTTTTAA,NC_000012.12:39621115::TTTTTTA,NC_000012.12:39621115::TTTTTTGAAA,NC_000012.12:39621115::TTTTTTTA,NC_000012.12:39621115::TTTTTTTAA
Gene:: ABCD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTA=0./0 (ALFA)
TTTTTTTA=0.00018/3 (TOMMO)
HGVS:: NC_000012.12:g.39621115_39621116insTA, NC_000012.12:g.39621115_39621116insTTTA, NC_000012.12:g.39621115_39621116insTTTTTA, NC_000012.12:g.39621115_39621116insTTTTTAA, NC_000012.12:g.39621115_39621116insTTTTTTA, NC_000012.12:g.39621115_39621116insTTTTTTGAAA, NC_000012.12:g.39621115_39621116insTTTTTTTA, NC_000012.12:g.39621115_39621116insTTTTTTTAA, NC_000012.11:g.40014917_40014918insTA, NC_000012.11:g.40014917_40014918insTTTA, NC_000012.11:g.40014917_40014918insTTTTTA, NC_000012.11:g.40014917_40014918insTTTTTAA, NC_000012.11:g.40014917_40014918insTTTTTTA, NC_000012.11:g.40014917_40014918insTTTTTTGAAA, NC_000012.11:g.40014917_40014918insTTTTTTTA, NC_000012.11:g.40014917_40014918insTTTTTTTAA

Select item 14911766573.

rs1491176657 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:39621116 (GRCh38)
12:40014918 (GRCh37)
Canonical SPDI:: NC_000012.12:39621114:TAT:T
Gene:: ABCD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00034/4 (ALFA)
HGVS:: NC_000012.12:g.39621116_39621117del, NC_000012.11:g.40014918_40014919del

Select item 14911330084.

rs1491133008 has merged into rs141410834 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAGA>-,GAAAGAGAAAGA [Show Flanks]
Chromosome:: 12:39534770 (GRCh38)
12:39928572 (GRCh37)
Canonical SPDI:: NC_000012.12:39534768:AGAAAGA:A,NC_000012.12:39534768:AGAAAGA:AGAAAGAGAAAGA
Gene:: ABCD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.04552/540 (ALFA)
-=0.15713/2549 (TOMMO)
-=0.17633/5268 (GnomAD)
HGVS:: NC_000012.12:g.39534770_39534775del, NC_000012.12:g.39534770_39534775dup, NC_000012.11:g.39928572_39928577del, NC_000012.11:g.39928572_39928577dup

Select item 14911045125.

rs1491104512 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:39534890 (GRCh38)
12:39928692 (GRCh37)
Canonical SPDI:: NC_000012.12:39534888:AAA:A
Gene:: ABCD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
-=0.00065/2 (GnomAD)
HGVS:: NC_000012.12:g.39534890_39534891del, NC_000012.11:g.39928692_39928693del

Select item 14910759016.

rs1491075901 has merged into rs71075067 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA,TATATATA,TATATATATA [Show Flanks]
Chromosome:: 12:39632066 (GRCh38)
12:40025868 (GRCh37)
Canonical SPDI:: NC_000012.12:39632051:TATATATATATATATA:TATATATATATATA,NC_000012.12:39632051:TATATATATATATATA:TATATATATATATATATA,NC_000012.12:39632051:TATATATATATATATA:TATATATATATATATATATA,NC_000012.12:39632051:TATATATATATATATA:TATATATATATATATATATATA,NC_000012.12:39632051:TATATATATATATATA:TATATATATATATATATATATATA
Gene:: C12orf40 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATATA=0./0 (ALFA)
TA=0.2895/11 (GENOME_DK)
TA=0.2933/176 (NorthernSweden)
TA=0.3144/1375 (Estonian)
TA=0.4655/2331 (1000Genomes)
HGVS:: NC_000012.12:g.39632052TA[7], NC_000012.12:g.39632052TA[9], NC_000012.12:g.39632052TA[10], NC_000012.12:g.39632052TA[11], NC_000012.12:g.39632052TA[12], NC_000012.11:g.40025854TA[7], NC_000012.11:g.40025854TA[9], NC_000012.11:g.40025854TA[10], NC_000012.11:g.40025854TA[11], NC_000012.11:g.40025854TA[12]

Select item 14910492627.

rs1491049262 has merged into rs768309808 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 12:39534776 (GRCh38)
12:39928578 (GRCh37)
Canonical SPDI:: NC_000012.12:39534774:AAA:A,NC_000012.12:39534774:AAA:AAAAA
Gene:: ABCD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.39534776_39534777del, NC_000012.12:g.39534776_39534777dup, NC_000012.11:g.39928578_39928579del, NC_000012.11:g.39928578_39928579dup

Select item 14910479008.

rs1491047900 has merged into rs1199965892 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 12:39534896 (GRCh38)
12:39928698 (GRCh37)
Canonical SPDI:: NC_000012.12:39534894:AGA:A,NC_000012.12:39534894:AGA:AGAGA
Gene:: ABCD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
HGVS:: NC_000012.12:g.39534896_39534897del, NC_000012.12:g.39534896_39534897dup, NC_000012.11:g.39928698_39928699del, NC_000012.11:g.39928698_39928699dup

Select item 14910291159.

rs1491029115 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG,AGGAAG [Show Flanks]
Chromosome:: 12:39534907 (GRCh38)
12:39928710 (GRCh37)
Canonical SPDI:: NC_000012.12:39534907::AG,NC_000012.12:39534907::AGGAAG
Gene:: ABCD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0.00152/18 (ALFA)
HGVS:: NC_000012.12:g.39534907_39534908insAG, NC_000012.12:g.39534907_39534908insAGGAAG, NC_000012.11:g.39928709_39928710insAG, NC_000012.11:g.39928709_39928710insAGGAAG

Select item 149101364810.

rs1491013648 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:39534908 (GRCh38)
12:39928710 (GRCh37)
Canonical SPDI:: NC_000012.12:39534906:AGA:A
Gene:: ABCD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000012.12:g.39534908_39534909del, NC_000012.11:g.39928710_39928711del

Select item 149099458911.

rs1490994589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:39617218 (GRCh38)
12:40011020 (GRCh37)
Canonical SPDI:: NC_000012.12:39617217:T:C
Gene:: ABCD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000016/2 (GnomAD)
HGVS:: NC_000012.12:g.39617218T>C, NC_000012.11:g.40011020T>C

Select item 149098673412.

rs1490986734 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:39561440 (GRCh38)
12:39955242 (GRCh37)
Canonical SPDI:: NC_000012.12:39561439:A:T
Gene:: ABCD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.39561440A>T, NC_000012.11:g.39955242A>T

Select item 149094369113.

rs1490943691 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:39574323 (GRCh38)
12:39968125 (GRCh37)
Canonical SPDI:: NC_000012.12:39574322:A:G
Gene:: ABCD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.39574323A>G, NC_000012.11:g.39968125A>G

Select item 149092805714.

rs1490928057 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:39575534 (GRCh38)
12:39969337 (GRCh37)
Canonical SPDI:: NC_000012.12:39575534:TTTTT:TTTTTT
Gene:: ABCD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000212/4 (TOMMO)
HGVS:: NC_000012.12:g.39575539dup, NC_000012.11:g.39969341dup

Select item 149092166415.

rs1490921664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:39578907 (GRCh38)
12:39972709 (GRCh37)
Canonical SPDI:: NC_000012.12:39578906:T:G
Gene:: ABCD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000043/6 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.39578907T>G, NC_000012.11:g.39972709T>G

Select item 149091369916.

rs1490913699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:39650647 (GRCh38)
12:40044449 (GRCh37)
Canonical SPDI:: NC_000012.12:39650646:G:A
Gene:: C12orf40 (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_000012.12:g.39650647G>A, NC_000012.11:g.40044449G>A

Select item 149085016117.

rs1490850161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:39632930 (GRCh38)
12:40026732 (GRCh37)
Canonical SPDI:: NC_000012.12:39632929:C:T
Gene:: C12orf40 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.39632930C>T, NC_000012.11:g.40026732C>T

Select item 149077244218.

rs1490772442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:39617229 (GRCh38)
12:40011031 (GRCh37)
Canonical SPDI:: NC_000012.12:39617228:T:C
Gene:: ABCD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.39617229T>C, NC_000012.11:g.40011031T>C

Select item 149077109519.

rs1490771095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:39532391 (GRCh38)
12:39926193 (GRCh37)
Canonical SPDI:: NC_000012.12:39532390:A:C,NC_000012.12:39532390:A:G,NC_000012.12:39532390:A:T
Gene:: ABCD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.39532391A>C, NC_000012.12:g.39532391A>G, NC_000012.12:g.39532391A>T, NC_000012.11:g.39926193A>C, NC_000012.11:g.39926193A>G, NC_000012.11:g.39926193A>T

Select item 149074704320.

rs1490747043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:39567357 (GRCh38)
12:39961159 (GRCh37)
Canonical SPDI:: NC_000012.12:39567356:G:C
Gene:: ABCD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000012.12:g.39567357G>C, NC_000012.11:g.39961159G>C

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