SNP Links for Gene (Select 56983) - SNP

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Select item 14915513301.

rs1491551330 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:119468623 (GRCh38)
3:119187470 (GRCh37)
Canonical SPDI:: NC_000003.12:119468622:AT:
Gene:: POGLUT1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000169/2 (ALFA)
-=0.001886/252 (GnomAD)
HGVS:: NC_000003.12:g.119468623_119468624del, NC_000003.11:g.119187470_119187471del, NG_034115.1:g.4686_4687del

Select item 14913770142.

rs1491377014 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:119478904 (GRCh38)
3:119197751 (GRCh37)
Canonical SPDI:: NC_000003.12:119478903:AG:
Gene:: POGLUT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00556/66 (ALFA)
-=0.00375/24 (1000Genomes)
-=0.00455/2 (NorthernSweden)
-=0.00495/64 (TOMMO)
-=0.01134/759 (GnomAD)
HGVS:: NC_000003.12:g.119478904_119478905del, NC_000003.11:g.119197751_119197752del, NG_034115.1:g.14967_14968del

Select item 14913764563.

rs1491376456 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 3:119475954 (GRCh38)
3:119194801 (GRCh37)
Canonical SPDI:: NC_000003.12:119475953:CC:
Gene:: POGLUT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000029/3 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.119475954_119475955del, NC_000003.11:g.119194801_119194802del, NG_034115.1:g.12017_12018del

Select item 14912129554.

rs1491212955 has merged into rs778562215 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAAA [Show Flanks]
Chromosome:: 3:119475995 (GRCh38)
3:119194842 (GRCh37)
Canonical SPDI:: NC_000003.12:119475993:AAA:A,NC_000003.12:119475993:AAA:AA,NC_000003.12:119475993:AAA:AAAAA
Gene:: POGLUT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.079827/296 (TWINSUK)
-=0.097302/375 (ALSPAC)
-=0.254745/27785 (GnomAD)
-=0.286667/172 (NorthernSweden)
-=0.356904/5956 (TOMMO)
HGVS:: NC_000003.12:g.119475995_119475996del, NC_000003.12:g.119475996del, NC_000003.12:g.119475995_119475996dup, NC_000003.11:g.119194842_119194843del, NC_000003.11:g.119194843del, NC_000003.11:g.119194842_119194843dup, NG_034115.1:g.12058_12059del, NG_034115.1:g.12059del, NG_034115.1:g.12058_12059dup

Select item 14912106195.

rs1491210619 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 3:119478904 (GRCh38)
3:119197752 (GRCh37)
Canonical SPDI:: NC_000003.12:119478904::AG
Gene:: POGLUT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
HGVS:: NC_000003.12:g.119478904_119478905insAG, NC_000003.11:g.119197751_119197752insAG, NG_034115.1:g.14967_14968insAG

Select item 14910475266.

rs1491047526 has merged into rs59731383 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:119467617 (GRCh38)
3:119186464 (GRCh37)
Canonical SPDI:: NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119467607:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: POGLUT1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.0795/398 (1000Genomes)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000003.12:g.119467617_119467625del, NC_000003.12:g.119467618_119467625del, NC_000003.12:g.119467619_119467625del, NC_000003.12:g.119467620_119467625del, NC_000003.12:g.119467621_119467625del, NC_000003.12:g.119467622_119467625del, NC_000003.12:g.119467623_119467625del, NC_000003.12:g.119467624_119467625del, NC_000003.12:g.119467625del, NC_000003.12:g.119467625dup, NC_000003.12:g.119467624_119467625dup, NC_000003.12:g.119467623_119467625dup, NC_000003.12:g.119467622_119467625dup, NC_000003.12:g.119467621_119467625dup, NC_000003.12:g.119467620_119467625dup, NC_000003.12:g.119467619_119467625dup, NC_000003.12:g.119467618_119467625dup, NC_000003.12:g.119467617_119467625dup, NC_000003.12:g.119467616_119467625dup, NC_000003.12:g.119467615_119467625dup, NC_000003.12:g.119467613_119467625dup, NC_000003.12:g.119467612_119467625dup, NC_000003.12:g.119467611_119467625dup, NC_000003.12:g.119467610_119467625dup, NC_000003.12:g.119467609_119467625dup, NC_000003.12:g.119467608_119467625dup, NC_000003.12:g.119467625_119467626insAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.119467625_119467626insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.119467608_119467625A[28]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.119186464_119186472del, NC_000003.11:g.119186465_119186472del, NC_000003.11:g.119186466_119186472del, NC_000003.11:g.119186467_119186472del, NC_000003.11:g.119186468_119186472del, NC_000003.11:g.119186469_119186472del, NC_000003.11:g.119186470_119186472del, NC_000003.11:g.119186471_119186472del, NC_000003.11:g.119186472del, NC_000003.11:g.119186472dup, NC_000003.11:g.119186471_119186472dup, NC_000003.11:g.119186470_119186472dup, NC_000003.11:g.119186469_119186472dup, NC_000003.11:g.119186468_119186472dup, NC_000003.11:g.119186467_119186472dup, NC_000003.11:g.119186466_119186472dup, NC_000003.11:g.119186465_119186472dup, NC_000003.11:g.119186464_119186472dup, NC_000003.11:g.119186463_119186472dup, NC_000003.11:g.119186462_119186472dup, NC_000003.11:g.119186460_119186472dup, NC_000003.11:g.119186459_119186472dup, NC_000003.11:g.119186458_119186472dup, NC_000003.11:g.119186457_119186472dup, NC_000003.11:g.119186456_119186472dup, NC_000003.11:g.119186455_119186472dup, NC_000003.11:g.119186472_119186473insAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.119186472_119186473insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.119186455_119186472A[28]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_034115.1:g.3680_3688del, NG_034115.1:g.3681_3688del, NG_034115.1:g.3682_3688del, NG_034115.1:g.3683_3688del, NG_034115.1:g.3684_3688del, NG_034115.1:g.3685_3688del, NG_034115.1:g.3686_3688del, NG_034115.1:g.3687_3688del, NG_034115.1:g.3688del, NG_034115.1:g.3688dup, NG_034115.1:g.3687_3688dup, NG_034115.1:g.3686_3688dup, NG_034115.1:g.3685_3688dup, NG_034115.1:g.3684_3688dup, NG_034115.1:g.3683_3688dup, NG_034115.1:g.3682_3688dup, NG_034115.1:g.3681_3688dup, NG_034115.1:g.3680_3688dup, NG_034115.1:g.3679_3688dup, NG_034115.1:g.3678_3688dup, NG_034115.1:g.3676_3688dup, NG_034115.1:g.3675_3688dup, NG_034115.1:g.3674_3688dup, NG_034115.1:g.3673_3688dup, NG_034115.1:g.3672_3688dup, NG_034115.1:g.3671_3688dup, NG_034115.1:g.3688_3689insAAAAAAAAAAAAAAAAAAAAA, NG_034115.1:g.3688_3689insAAAAAAAAAAAAAAAAAAAAAAA, NG_034115.1:g.3671_3688A[28]TAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14910035897.

rs1491003589 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 3:119479643 (GRCh38)
3:119198490 (GRCh37)
Canonical SPDI:: NC_000003.12:119479642:AAAAAAA:AAAAAA,NC_000003.12:119479642:AAAAAAA:AAAAAAAA
Gene:: POGLUT1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.119479649del, NC_000003.12:g.119479649dup, NC_000003.11:g.119198496del, NC_000003.11:g.119198496dup, NG_034115.1:g.15712del, NG_034115.1:g.15712dup, XM_047448594.1:c.-190del, XM_047448594.1:c.-190dup

Select item 14909553598.

rs1490955359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:119473806 (GRCh38)
3:119192653 (GRCh37)
Canonical SPDI:: NC_000003.12:119473805:G:A,NC_000003.12:119473805:G:T
Gene:: POGLUT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000003.12:g.119473806G>A, NC_000003.12:g.119473806G>T, NC_000003.11:g.119192653G>A, NC_000003.11:g.119192653G>T, NG_034115.1:g.9869G>A, NG_034115.1:g.9869G>T

Select item 14909395579.

rs1490939557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:119476457 (GRCh38)
3:119195304 (GRCh37)
Canonical SPDI:: NC_000003.12:119476456:G:A,NC_000003.12:119476456:G:T
Gene:: POGLUT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.119476457G>A, NC_000003.12:g.119476457G>T, NC_000003.11:g.119195304G>A, NC_000003.11:g.119195304G>T, NG_034115.1:g.12520G>A, NG_034115.1:g.12520G>T

Select item 149065957010.

rs1490659570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:119470055 (GRCh38)
3:119188902 (GRCh37)
Canonical SPDI:: NC_000003.12:119470054:G:C
Gene:: POGLUT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
C=0.000015/4 (TOPMED)
C=0.000035/1 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000003.12:g.119470055G>C, NC_000003.11:g.119188902G>C, NG_034115.1:g.6118G>C

Select item 149052415111.

rs1490524151 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAAA>- [Show Flanks]
Chromosome:: 3:119488431 (GRCh38)
3:119207278 (GRCh37)
Canonical SPDI:: NC_000003.12:119488429:AAGAAA:A
Gene:: POGLUT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.119488431_119488435del, NC_000003.11:g.119207278_119207282del, NG_034115.1:g.24494_24498del

Select item 149046339212.

rs1490463392 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:119472698 (GRCh38)
3:119191545 (GRCh37)
Canonical SPDI:: NC_000003.12:119472697:A:G
Gene:: POGLUT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.119472698A>G, NC_000003.11:g.119191545A>G, NG_034115.1:g.8761A>G

Select item 149044745213.

rs1490447452 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 149027036614.

rs1490270366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:119487536 (GRCh38)
3:119206383 (GRCh37)
Canonical SPDI:: NC_000003.12:119487535:G:A
Gene:: POGLUT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.001667/1 (NorthernSweden)
HGVS:: NC_000003.12:g.119487536G>A, NC_000003.11:g.119206383G>A, NG_034115.1:g.23599G>A

Select item 149022292315.

rs1490222923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:119472268 (GRCh38)
3:119191115 (GRCh37)
Canonical SPDI:: NC_000003.12:119472267:C:T
Gene:: POGLUT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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.119472268C>T, NC_000003.11:g.119191115C>T, NG_034115.1:g.8331C>T

Select item 149019707816.

rs1490197078 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:119473517 (GRCh38)
3:119192364 (GRCh37)
Canonical SPDI:: NC_000003.12:119473516:A:G
Gene:: POGLUT1 (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)
G=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.119473517A>G, NC_000003.11:g.119192364A>G, NG_034115.1:g.9580A>G

Select item 149019485717.

rs1490194857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:119489631 (GRCh38)
3:119208478 (GRCh37)
Canonical SPDI:: NC_000003.12:119489630:T:G
Gene:: POGLUT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.119489631T>G, NC_000003.11:g.119208478T>G, NG_034115.1:g.25694T>G

Select item 148987280518.

rs1489872805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:119469797 (GRCh38)
3:119188644 (GRCh37)
Canonical SPDI:: NC_000003.12:119469796:C:G
Gene:: POGLUT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.119469797C>G, NC_000003.11:g.119188644C>G, NG_034115.1:g.5860C>G

Select item 148983790119.

rs1489837901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:119469830 (GRCh38)
3:119188677 (GRCh37)
Canonical SPDI:: NC_000003.12:119469829:G:C
Gene:: POGLUT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.119469830G>C, NC_000003.11:g.119188677G>C, NG_034115.1:g.5893G>C, NM_152305.3:c.96G>C, NM_152305.2:c.96G>C, NR_024265.2:n.155G>C, NR_024265.1:n.180G>C, NM_020231.3:c.96G>C, NM_020231.2:c.96G>C, NM_020231.1:c.96G>C, NP_689518.1:p.Trp32Cys

Select item 148962663120.

rs1489626631 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:119472829 (GRCh38)
3:119191676 (GRCh37)
Canonical SPDI:: NC_000003.12:119472828:A:G
Gene:: POGLUT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.119472829A>G, NC_000003.11:g.119191676A>G, NG_034115.1:g.8892A>G

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