SNP Links for Gene (Select 81544) - SNP

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Select item 14915886421.

rs1491588642 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 11:75441569 (GRCh38)
11:75152614 (GRCh37)
Canonical SPDI:: NC_000011.10:75441568:TT:
Gene:: GDPD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0024/12 (1000Genomes)
HGVS:: NC_000011.10:g.75441569_75441570del, NC_000011.9:g.75152614_75152615del

Select item 14915795342.

rs1491579534 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GAGAGAGAGA [Show Flanks]
Chromosome:: 11:75438855 (GRCh38)
11:75149900 (GRCh37)
Canonical SPDI:: NC_000011.10:75438849:AGAGAGAGA:AGAGA,NC_000011.10:75438849:AGAGAGAGA:AGAGAGAGAGAGAGA
Gene:: GDPD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0.000084/1 (ALFA)
AGAGAG=0.000051/7 (GnomAD)
HGVS:: NC_000011.10:g.75438851GA[2], NC_000011.10:g.75438851GA[7], NC_000011.9:g.75149896GA[2], NC_000011.9:g.75149896GA[7]

Select item 14914968923.

rs1491496892 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:75499394 (GRCh38)
11:75210439 (GRCh37)
Canonical SPDI:: NC_000011.10:75499393:CT:
Gene:: GDPD5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00034/4 (ALFA)
-=0.001704/28 (TOMMO)
-=0.003995/514 (GnomAD)
HGVS:: NC_000011.10:g.75499394_75499395del, NC_000011.9:g.75210439_75210440del

Select item 14914748514.

rs1491474851 has merged into rs34572465 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 11:75459348 (GRCh38)
11:75170393 (GRCh37)
Canonical SPDI:: NC_000011.10:75459334:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:75459334:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:75459334:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:75459334:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:75459334:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:75459334:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:75459334:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: GDPD5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.2921/1463 (1000Genomes)
TT=0.35/14 (GENOME_DK)
HGVS:: NC_000011.10:g.75459348_75459352del, NC_000011.10:g.75459349_75459352del, NC_000011.10:g.75459350_75459352del, NC_000011.10:g.75459351_75459352del, NC_000011.10:g.75459352del, NC_000011.10:g.75459352dup, NC_000011.10:g.75459351_75459352dup, NC_000011.9:g.75170393_75170397del, NC_000011.9:g.75170394_75170397del, NC_000011.9:g.75170395_75170397del, NC_000011.9:g.75170396_75170397del, NC_000011.9:g.75170397del, NC_000011.9:g.75170397dup, NC_000011.9:g.75170396_75170397dup

Select item 14913762545.

rs1491376254 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:75508566 (GRCh38)
11:75219611 (GRCh37)
Canonical SPDI:: NC_000011.10:75508565:AG:
Gene:: GDPD5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.75508566_75508567del, NC_000011.9:g.75219611_75219612del

Select item 14913535836.

rs1491353583 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 11:75441543 (GRCh38)
11:75152588 (GRCh37)
Canonical SPDI:: NC_000011.10:75441542:CG:
Gene:: GDPD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.75441543_75441544del, NC_000011.9:g.75152588_75152589del

Select item 14912011037.

rs1491201103 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:75494207 (GRCh38)
11:75205252 (GRCh37)
Canonical SPDI:: NC_000011.10:75494206:CT:
Gene:: GDPD5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.75494207_75494208del, NC_000011.9:g.75205252_75205253del

Select item 14911936348.

rs1491193634 has merged into rs376714511 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:75499407 (GRCh38)
11:75210452 (GRCh37)
Canonical SPDI:: NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GDPD5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.75499407_75499417del, NC_000011.10:g.75499409_75499417del, NC_000011.10:g.75499411_75499417del, NC_000011.10:g.75499412_75499417del, NC_000011.10:g.75499413_75499417del, NC_000011.10:g.75499414_75499417del, NC_000011.10:g.75499415_75499417del, NC_000011.10:g.75499416_75499417del, NC_000011.10:g.75499417del, NC_000011.10:g.75499417dup, NC_000011.10:g.75499416_75499417dup, NC_000011.10:g.75499415_75499417dup, NC_000011.10:g.75499414_75499417dup, NC_000011.9:g.75210452_75210462del, NC_000011.9:g.75210454_75210462del, NC_000011.9:g.75210456_75210462del, NC_000011.9:g.75210457_75210462del, NC_000011.9:g.75210458_75210462del, NC_000011.9:g.75210459_75210462del, NC_000011.9:g.75210460_75210462del, NC_000011.9:g.75210461_75210462del, NC_000011.9:g.75210462del, NC_000011.9:g.75210462dup, NC_000011.9:g.75210461_75210462dup, NC_000011.9:g.75210460_75210462dup, NC_000011.9:g.75210459_75210462dup

Select item 14911912819.

rs1491191281 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 11:75499393 (GRCh38)
11:75210438 (GRCh37)
Canonical SPDI:: NC_000011.10:75499392:CC:
Gene:: GDPD5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.1553/576 (TWINSUK)
-=0.1884/726 (ALSPAC)
HGVS:: NC_000011.10:g.75499393_75499394del, NC_000011.9:g.75210438_75210439del

Select item 149116623610.

rs1491166236 has merged into rs376714511 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:75499407 (GRCh38)
11:75210452 (GRCh37)
Canonical SPDI:: NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:75499394:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GDPD5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.75499407_75499417del, NC_000011.10:g.75499409_75499417del, NC_000011.10:g.75499411_75499417del, NC_000011.10:g.75499412_75499417del, NC_000011.10:g.75499413_75499417del, NC_000011.10:g.75499414_75499417del, NC_000011.10:g.75499415_75499417del, NC_000011.10:g.75499416_75499417del, NC_000011.10:g.75499417del, NC_000011.10:g.75499417dup, NC_000011.10:g.75499416_75499417dup, NC_000011.10:g.75499415_75499417dup, NC_000011.10:g.75499414_75499417dup, NC_000011.9:g.75210452_75210462del, NC_000011.9:g.75210454_75210462del, NC_000011.9:g.75210456_75210462del, NC_000011.9:g.75210457_75210462del, NC_000011.9:g.75210458_75210462del, NC_000011.9:g.75210459_75210462del, NC_000011.9:g.75210460_75210462del, NC_000011.9:g.75210461_75210462del, NC_000011.9:g.75210462del, NC_000011.9:g.75210462dup, NC_000011.9:g.75210461_75210462dup, NC_000011.9:g.75210460_75210462dup, NC_000011.9:g.75210459_75210462dup

Select item 149115831111.

rs1491158311 has merged into rs55639442 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:75494223 (GRCh38)
11:75205268 (GRCh37)
Canonical SPDI:: NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GDPD5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.0026/13 (1000Genomes)
HGVS:: NC_000011.10:g.75494223_75494227del, NC_000011.10:g.75494224_75494227del, NC_000011.10:g.75494225_75494227del, NC_000011.10:g.75494226_75494227del, NC_000011.10:g.75494227del, NC_000011.10:g.75494226_75494227dup, NC_000011.10:g.75494224_75494227dup, NC_000011.10:g.75494220_75494227dup, NC_000011.10:g.75494218_75494227dup, NC_000011.10:g.75494227_75494228insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.75205268_75205272del, NC_000011.9:g.75205269_75205272del, NC_000011.9:g.75205270_75205272del, NC_000011.9:g.75205271_75205272del, NC_000011.9:g.75205272del, NC_000011.9:g.75205271_75205272dup, NC_000011.9:g.75205269_75205272dup, NC_000011.9:g.75205265_75205272dup, NC_000011.9:g.75205263_75205272dup, NC_000011.9:g.75205272_75205273insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149111538612.

rs1491115386 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>-,TCTC [Show Flanks]
Chromosome:: 11:75493229 (GRCh38)
11:75204274 (GRCh37)
Canonical SPDI:: NC_000011.10:75493226:TCTC:TC,NC_000011.10:75493226:TCTC:TCTCTC
Gene:: GDPD5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTC=0.00017/2 (ALFA)
HGVS:: NC_000011.10:g.75493227TC[1], NC_000011.10:g.75493227TC[3], NC_000011.9:g.75204272TC[1], NC_000011.9:g.75204272TC[3]

Select item 149107774713.

rs1491077747 has merged into rs200953760 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 11:75505133 (GRCh38)
11:75216178 (GRCh37)
Canonical SPDI:: NC_000011.10:75505123:AAAAAAAAAAA:AAAAAAAAA,NC_000011.10:75505123:AAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:75505123:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:75505123:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: GDPD5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.002973/787 (TOPMED)
A=0.068792/41 (NorthernSweden)
A=0.098243/492 (1000Genomes)
A=0.143931/2412 (TOMMO)
HGVS:: NC_000011.10:g.75505133_75505134del, NC_000011.10:g.75505134del, NC_000011.10:g.75505134dup, NC_000011.10:g.75505133_75505134dup, NC_000011.9:g.75216178_75216179del, NC_000011.9:g.75216179del, NC_000011.9:g.75216179dup, NC_000011.9:g.75216178_75216179dup

Select item 149093557414.

rs1490935574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:75513663 (GRCh38)
11:75224708 (GRCh37)
Canonical SPDI:: NC_000011.10:75513662:C:G
Gene:: GDPD5 (Varview), LOC105369389 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.75513663C>G, NC_000011.9:g.75224708C>G, XM_047427646.1:c.-5332G>C

Select item 149090725615.

rs1490907256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:75478020 (GRCh38)
11:75189065 (GRCh37)
Canonical SPDI:: NC_000011.10:75478019:C:T
Gene:: GDPD5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000011.10:g.75478020C>T, NC_000011.9:g.75189065C>T

Select item 149090508116.

rs1490905081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:75512552 (GRCh38)
11:75223597 (GRCh37)
Canonical SPDI:: NC_000011.10:75512551:G:T
Gene:: GDPD5 (Varview), LOC105369389 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.75512552G>T, NC_000011.9:g.75223597G>T, XM_047427646.1:c.-4221C>A

Select item 149080691817.

rs1490806918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:75506073 (GRCh38)
11:75217118 (GRCh37)
Canonical SPDI:: NC_000011.10:75506072:C:T
Gene:: GDPD5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000011.10:g.75506073C>T, NC_000011.9:g.75217118C>T

Select item 149077386818.

rs1490773868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:75490179 (GRCh38)
11:75201224 (GRCh37)
Canonical SPDI:: NC_000011.10:75490178:C:G
Gene:: GDPD5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.75490179C>G, NC_000011.9:g.75201224C>G

Select item 149072255219.

rs1490722552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:75498992 (GRCh38)
11:75210037 (GRCh37)
Canonical SPDI:: NC_000011.10:75498991:C:T
Gene:: GDPD5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000011.10:g.75498992C>T, NC_000011.9:g.75210037C>T

Select item 149067958820.

rs1490679588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:75473797 (GRCh38)
11:75184842 (GRCh37)
Canonical SPDI:: NC_000011.10:75473796:C:G
Gene:: GDPD5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000011.10:g.75473797C>G, NC_000011.9:g.75184842C>G

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