SNP Links for Gene (Select 101928314) - SNP

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Select item 14915489281.

rs1491548928 has merged into rs56057771 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:172678361 (GRCh38)
4:173599512 (GRCh37)
Canonical SPDI:: NC_000004.12:172678350:TTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:172678350:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:172678350:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:172678350:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:172678350:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:172678350:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:172678350:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:172678350:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TT=0.0172/86 (1000Genomes)
TT=0.025/1 (GENOME_DK)
TT=0.032/19 (NorthernSweden)
HGVS:: NC_000004.12:g.172678361_172678362del, NC_000004.12:g.172678362del, NC_000004.12:g.172678362dup, NC_000004.12:g.172678361_172678362dup, NC_000004.12:g.172678360_172678362dup, NC_000004.12:g.172678359_172678362dup, NC_000004.12:g.172678358_172678362dup, NC_000004.12:g.172678352_172678362dup, NC_000004.11:g.173599512_173599513del, NC_000004.11:g.173599513del, NC_000004.11:g.173599513dup, NC_000004.11:g.173599512_173599513dup, NC_000004.11:g.173599511_173599513dup, NC_000004.11:g.173599510_173599513dup, NC_000004.11:g.173599509_173599513dup, NC_000004.11:g.173599503_173599513dup

Select item 14913216862.

rs1491321686 has merged into rs34724807 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:172687641 (GRCh38)
4:173608792 (GRCh37)
Canonical SPDI:: NC_000004.12:172687625:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:172687625:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:172687625:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:172687625:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:172687625:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:172687625:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:172687625:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:172687625:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:172687625:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:172687625:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0.0004/2 (ALFA)
AA=0.47/2354 (1000Genomes)
HGVS:: NC_000004.12:g.172687641_172687645del, NC_000004.12:g.172687642_172687645del, NC_000004.12:g.172687643_172687645del, NC_000004.12:g.172687644_172687645del, NC_000004.12:g.172687645del, NC_000004.12:g.172687645dup, NC_000004.12:g.172687644_172687645dup, NC_000004.12:g.172687643_172687645dup, NC_000004.12:g.172687642_172687645dup, NC_000004.12:g.172687639_172687645dup, NC_000004.11:g.173608792_173608796del, NC_000004.11:g.173608793_173608796del, NC_000004.11:g.173608794_173608796del, NC_000004.11:g.173608795_173608796del, NC_000004.11:g.173608796del, NC_000004.11:g.173608796dup, NC_000004.11:g.173608795_173608796dup, NC_000004.11:g.173608794_173608796dup, NC_000004.11:g.173608793_173608796dup, NC_000004.11:g.173608790_173608796dup

Select item 14911621223.

rs1491162122 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:172687625 (GRCh38)
4:173608776 (GRCh37)
Canonical SPDI:: NC_000004.12:172687624:CA:
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00126/15 (ALFA)
HGVS:: NC_000004.12:g.172687625_172687626del, NC_000004.11:g.173608776_173608777del

Select item 14910591434.

rs1491059143 [Homo sapiens]

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

Select item 14909655445.

rs1490965544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:172702194 (GRCh38)
4:173623345 (GRCh37)
Canonical SPDI:: NC_000004.12:172702193:G:A
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000036/5 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.172702194G>A, NC_000004.11:g.173623345G>A

Select item 14909389436.

rs1490938943 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:172713195 (GRCh38)
4:173634346 (GRCh37)
Canonical SPDI:: NC_000004.12:172713194:A:T
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.172713195A>T, NC_000004.11:g.173634346A>T

Select item 14909327197.

rs1490932719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:172638194 (GRCh38)
4:173559345 (GRCh37)
Canonical SPDI:: NC_000004.12:172638193:C:A
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.172638194C>A, NC_000004.11:g.173559345C>A

Select item 14909015678.

rs1490901567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:172660207 (GRCh38)
4:173581358 (GRCh37)
Canonical SPDI:: NC_000004.12:172660206:A:G
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.172660207A>G, NC_000004.11:g.173581358A>G

Select item 14908870819.

rs1490887081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:172714172 (GRCh38)
4:173635323 (GRCh37)
Canonical SPDI:: NC_000004.12:172714171:T:C
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.172714172T>C, NC_000004.11:g.173635323T>C

Select item 149088127510.

rs1490881275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:172671415 (GRCh38)
4:173592566 (GRCh37)
Canonical SPDI:: NC_000004.12:172671414:T:C
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.172671415T>C, NC_000004.11:g.173592566T>C

Select item 149085370411.

rs1490853704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:172656714 (GRCh38)
4:173577865 (GRCh37)
Canonical SPDI:: NC_000004.12:172656713:A:G
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000004.12:g.172656714A>G, NC_000004.11:g.173577865A>G

Select item 149082060612.

rs1490820606 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:172720613 (GRCh38)
4:173641764 (GRCh37)
Canonical SPDI:: NC_000004.12:172720612:A:G
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.172720613A>G, NC_000004.11:g.173641764A>G

Select item 149077694313.

rs1490776943 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:172641620 (GRCh38)
4:173562771 (GRCh37)
Canonical SPDI:: NC_000004.12:172641619:T:C
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.172641620T>C, NC_000004.11:g.173562771T>C

Select item 149070502114.

rs1490705021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:172696317 (GRCh38)
4:173617468 (GRCh37)
Canonical SPDI:: NC_000004.12:172696316:C:T
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (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=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000004.12:g.172696317C>T, NC_000004.11:g.173617468C>T

Select item 149064713515.

rs1490647135 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:172672125 (GRCh38)
4:173593276 (GRCh37)
Canonical SPDI:: NC_000004.12:172672124:A:G,NC_000004.12:172672124:A:T
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.172672125A>G, NC_000004.12:g.172672125A>T, NC_000004.11:g.173593276A>G, NC_000004.11:g.173593276A>T

Select item 149063759916.

rs1490637599 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:172629634 (GRCh38)
4:173550785 (GRCh37)
Canonical SPDI:: NC_000004.12:172629632:ACA:A
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.172629634_172629635del, NC_000004.11:g.173550785_173550786del

Select item 149063227417.

rs1490632274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:172688892 (GRCh38)
4:173610043 (GRCh37)
Canonical SPDI:: NC_000004.12:172688891:A:G
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_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_000004.12:g.172688892A>G, NC_000004.11:g.173610043A>G, NR_125895.1:n.26T>C

Select item 149060909418.

rs1490609094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:172722345 (GRCh38)
4:173643496 (GRCh37)
Canonical SPDI:: NC_000004.12:172722344:T:C
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.172722345T>C, NC_000004.11:g.173643496T>C

Select item 149058666419.

rs1490586664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:172630684 (GRCh38)
4:173551835 (GRCh37)
Canonical SPDI:: NC_000004.12:172630683:T:C
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000004.12:g.172630684T>C, NC_000004.11:g.173551835T>C

Select item 149056955720.

rs1490569557 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:172704803 (GRCh38)
4:173625954 (GRCh37)
Canonical SPDI:: NC_000004.12:172704802:A:G
Gene:: GALNTL6 (Varview), GALNTL6-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000177/3 (TOMMO)
HGVS:: NC_000004.12:g.172704803A>G, NC_000004.11:g.173625954A>G

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