SNP Links for Gene (Select 137964) - SNP

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Select item 14915761601.

rs1491576160 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 8:41600054 (GRCh38)
8:41457573 (GRCh37)
Canonical SPDI:: NC_000008.11:41600053:TC:
Gene:: GPAT4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000037/5 (GnomAD)
HGVS:: NC_000008.11:g.41600054_41600055del, NC_000008.10:g.41457573_41457574del

Select item 14915554262.

rs1491555426 has merged into rs33939804 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGG [Show Flanks]
Chromosome:: 8:41615452 (GRCh38)
8:41472971 (GRCh37)
Canonical SPDI:: NC_000008.11:41615451:GGGGGGGGGG:GGGGGGGGG,NC_000008.11:41615451:GGGGGGGGGG:GGGGGGGGGGG,NC_000008.11:41615451:GGGGGGGGGG:GGGGGGGGGGGG
Gene:: GPAT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000008.11:g.41615461del, NC_000008.11:g.41615461dup, NC_000008.11:g.41615460_41615461dup, NC_000008.10:g.41472980del, NC_000008.10:g.41472980dup, NC_000008.10:g.41472979_41472980dup

Select item 14914939523.

rs1491493952 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 8:41576283 (GRCh38)
8:41433803 (GRCh37)
Canonical SPDI:: NC_000008.11:41576283:T:TCT
Gene:: GPAT4 (Varview), GPAT4-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000008.11:g.41576284_41576285insCT, NC_000008.10:g.41433803_41433804insCT

Select item 14914891214.

rs1491489121 has merged into rs5891158 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:41576290 (GRCh38)
8:41433809 (GRCh37)
Canonical SPDI:: NC_000008.11:41576282:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000008.11:41576282:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:41576282:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:41576282:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:41576282:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:41576282:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:41576282:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: GPAT4 (Varview), GPAT4-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
-=0.4627/2317 (1000Genomes)
HGVS:: NC_000008.11:g.41576290_41576298del, NC_000008.11:g.41576296_41576298del, NC_000008.11:g.41576297_41576298del, NC_000008.11:g.41576298del, NC_000008.11:g.41576298dup, NC_000008.11:g.41576297_41576298dup, NC_000008.11:g.41576296_41576298dup, NC_000008.10:g.41433809_41433817del, NC_000008.10:g.41433815_41433817del, NC_000008.10:g.41433816_41433817del, NC_000008.10:g.41433817del, NC_000008.10:g.41433817dup, NC_000008.10:g.41433816_41433817dup, NC_000008.10:g.41433815_41433817dup

Select item 14913656285.

rs1491365628 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 8:41615450 (GRCh38)
8:41472969 (GRCh37)
Canonical SPDI:: NC_000008.11:41615449:TT:
Gene:: GPAT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.008822/34 (ALSPAC)
-=0.0089/33 (TWINSUK)
HGVS:: NC_000008.11:g.41615450_41615451del, NC_000008.10:g.41472969_41472970del

Select item 14912140426.

rs1491214042 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 8:41581646 (GRCh38)
8:41439165 (GRCh37)
Canonical SPDI:: NC_000008.11:41581645:TG:
Gene:: GPAT4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.41581646_41581647del, NC_000008.10:g.41439165_41439166del

Select item 14911958747.

rs1491195874 [Homo sapiens]

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

Select item 14910622358.

rs1491062235 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:41582477 (GRCh38)
8:41439996 (GRCh37)
Canonical SPDI:: NC_000008.11:41582476:AT:
Gene:: GPAT4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00053/9 (TOMMO)
-=0.00218/4 (Korea1K)
-=0.00333/2 (NorthernSweden)
-=0.01447/1336 (GnomAD)
HGVS:: NC_000008.11:g.41582477_41582478del, NC_000008.10:g.41439996_41439997del

Select item 14909798749.

rs1490979874 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:41600825 (GRCh38)
8:41458344 (GRCh37)
Canonical SPDI:: NC_000008.11:41600824:T:C
Gene:: GPAT4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.41600825T>C, NC_000008.10:g.41458344T>C

Select item 149096698810.

rs1490966988 [Homo sapiens]

Variant type:: DEL
Alleles:: TGTTC>- [Show Flanks]
Chromosome:: 8:41615654 (GRCh38)
8:41473173 (GRCh37)
Canonical SPDI:: NC_000008.11:41615653:TGTTC:
Gene:: GPAT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.41615654_41615658del, NC_000008.10:g.41473173_41473177del

Select item 149082794811.

rs1490827948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:41624054 (GRCh38)
8:41481573 (GRCh37)
Canonical SPDI:: NC_000008.11:41624053:C:T
Gene:: GPAT4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.41624054C>T, NC_000008.10:g.41481573C>T, NM_178819.4:c.*3053C>T, NM_178819.3:c.*3053C>T, NM_001363198.2:c.*3053C>T, NM_001363198.1:c.*3053C>T, NM_001363197.2:c.*3053C>T, NM_001363197.1:c.*3053C>T, XM_047421370.1:c.*3053C>T, XM_047421372.1:c.*3053C>T, XM_047421371.1:c.*3053C>T, XM_047421374.1:c.*3053C>T

Select item 149077240412.

rs1490772404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:41623358 (GRCh38)
8:41480877 (GRCh37)
Canonical SPDI:: NC_000008.11:41623357:C:T
Gene:: GPAT4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.41623358C>T, NC_000008.10:g.41480877C>T, NM_178819.4:c.*2357C>T, NM_178819.3:c.*2357C>T, NM_001363198.2:c.*2357C>T, NM_001363198.1:c.*2357C>T, NM_001363197.2:c.*2357C>T, NM_001363197.1:c.*2357C>T, XM_047421370.1:c.*2357C>T, XM_047421372.1:c.*2357C>T, XM_047421371.1:c.*2357C>T, XM_047421374.1:c.*2357C>T

Select item 149073956813.

rs1490739568 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:41586805 (GRCh38)
8:41444324 (GRCh37)
Canonical SPDI:: NC_000008.11:41586804:A:G
Gene:: GPAT4 (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_000008.11:g.41586805A>G, NC_000008.10:g.41444324A>G

Select item 149069361714.

rs1490693617 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:41589007 (GRCh38)
8:41446526 (GRCh37)
Canonical SPDI:: NC_000008.11:41589006:A:T
Gene:: GPAT4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000008.11:g.41589007A>T, NC_000008.10:g.41446526A>T

Select item 149064248415.

rs1490642484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:41622038 (GRCh38)
8:41479557 (GRCh37)
Canonical SPDI:: NC_000008.11:41622037:G:A
Gene:: GPAT4 (Varview)
Functional Consequence:: 3_prime_UTR_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_000008.11:g.41622038G>A, NC_000008.10:g.41479557G>A, NM_178819.4:c.*1037G>A, NM_178819.3:c.*1037G>A, NM_001363198.2:c.*1037G>A, NM_001363198.1:c.*1037G>A, NM_001363197.2:c.*1037G>A, NM_001363197.1:c.*1037G>A, XM_047421370.1:c.*1037G>A, XM_047421372.1:c.*1037G>A, XM_047421371.1:c.*1037G>A, XM_047421374.1:c.*1037G>A

Select item 149051675416.

rs1490516754 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:41589975 (GRCh38)
8:41447494 (GRCh37)
Canonical SPDI:: NC_000008.11:41589974:TT:T
Gene:: GPAT4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.41589976del, NC_000008.10:g.41447495del

Select item 149040075117.

rs1490400751 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>- [Show Flanks]
Chromosome:: 8:41595116 (GRCh38)
8:41452635 (GRCh37)
Canonical SPDI:: NC_000008.11:41595112:TAATAA:TAA
Gene:: GPAT4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.41595113TAA[1], NC_000008.10:g.41452632TAA[1]

Select item 149039598918.

rs1490395989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:41605338 (GRCh38)
8:41462857 (GRCh37)
Canonical SPDI:: NC_000008.11:41605337:G:A
Gene:: GPAT4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.41605338G>A, NC_000008.10:g.41462857G>A

Select item 149037565319.

rs1490375653 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:41594440 (GRCh38)
8:41451959 (GRCh37)
Canonical SPDI:: NC_000008.11:41594439:A:G
Gene:: GPAT4 (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_000008.11:g.41594440A>G, NC_000008.10:g.41451959A>G

Select item 149024838420.

rs1490248384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:41585703 (GRCh38)
8:41443222 (GRCh37)
Canonical SPDI:: NC_000008.11:41585702:G:A
Gene:: GPAT4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.41585703G>A, NC_000008.10:g.41443222G>A

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