SNP Links for Gene (Select 105379340) - SNP

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Items: 1 to 20 of 9830

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Select item 14914939071.

rs1491493907 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:27195910 (GRCh38)
8:27053427 (GRCh37)
Canonical SPDI:: NC_000008.11:27195909:AG:
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000214/3 (ALFA)
-=0.000068/18 (TOPMED)
-=0.000073/10 (GnomAD)
HGVS:: NC_000008.11:g.27195910_27195911del, NC_000008.10:g.27053427_27053428del

Select item 14914654202.

rs1491465420 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:27178519 (GRCh38)
8:27036036 (GRCh37)
Canonical SPDI:: NC_000008.11:27178517:ACA:A
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.01155/137 (ALFA)
-=0.00039/11 (TOMMO)
-=0.0051/8 (Korea1K)
-=0.00858/104 (GnomAD)
HGVS:: NC_000008.11:g.27178519_27178520del, NC_000008.10:g.27036036_27036037del

Select item 14914524373.

rs1491452437 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:27186894 (GRCh38)
8:27044411 (GRCh37)
Canonical SPDI:: NC_000008.11:27186892:ATA:A
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
-=0.000318/5 (TOMMO)
HGVS:: NC_000008.11:g.27186894_27186895del, NC_000008.10:g.27044411_27044412del

Select item 14913643174.

rs1491364317 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT [Show Flanks]
Chromosome:: 8:27200595 (GRCh38)
8:27058113 (GRCh37)
Canonical SPDI:: NC_000008.11:27200595::GT
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GT=0./0 (ALFA)
GT=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.27200595_27200596insGT, NC_000008.10:g.27058112_27058113insGT

Select item 14913156805.

rs1491315680 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:27173762 (GRCh38)
8:27031279 (GRCh37)
Canonical SPDI:: NC_000008.11:27173757:ATATAT:ATAT
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.27173758AT[2], NC_000008.10:g.27031275AT[2]

Select item 14912803586.

rs1491280358 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 8:27195910 (GRCh38)
8:27053428 (GRCh37)
Canonical SPDI:: NC_000008.11:27195910::AT
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
HGVS:: NC_000008.11:g.27195910_27195911insAT, NC_000008.10:g.27053427_27053428insAT

Select item 14911734697.

rs1491173469 has merged into rs1338620610 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTATAT>-,GTATATGTATAT [Show Flanks]
Chromosome:: 8:27173770 (GRCh38)
8:27031287 (GRCh37)
Canonical SPDI:: NC_000008.11:27173758:TATATGTATATGTATAT:TATATGTATAT,NC_000008.11:27173758:TATATGTATATGTATAT:TATATGTATATGTATATGTATAT
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATGTATATGTATATGTATAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
TATATG=0.000546/1 (Korea1K)
HGVS:: NC_000008.11:g.27173764GTATAT[1], NC_000008.11:g.27173764GTATAT[3], NC_000008.10:g.27031281GTATAT[1], NC_000008.10:g.27031281GTATAT[3]

Select item 14910708058.

rs1491070805 has merged into rs1375141411 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA [Show Flanks]
Chromosome:: 8:27194446 (GRCh38)
8:27051963 (GRCh37)
Canonical SPDI:: NC_000008.11:27194441:TATATATA:TATA,NC_000008.11:27194441:TATATATA:TATATA,NC_000008.11:27194441:TATATATA:TATATATATA,NC_000008.11:27194441:TATATATA:TATATATATATA
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.27194442TA[2], NC_000008.11:g.27194442TA[3], NC_000008.11:g.27194442TA[5], NC_000008.11:g.27194442TA[6], NC_000008.10:g.27051959TA[2], NC_000008.10:g.27051959TA[3], NC_000008.10:g.27051959TA[5], NC_000008.10:g.27051959TA[6]

Select item 14910154609.

rs1491015460 has merged into rs35243176 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATAGTCTTTAACTATATATATATA,TATATAGTCTTTATATATATA,TATATAGTCTTTATATATATATA,TATATATA [Show Flanks]
Chromosome:: 8:27194389 (GRCh38)
8:27051906 (GRCh37)
Canonical SPDI:: NC_000008.11:27194382:TATATATATA:TATATA,NC_000008.11:27194382:TATATATATA:TATATATA,NC_000008.11:27194382:TATATATATA:TATATATATATA,NC_000008.11:27194382:TATATATATA:TATATATATATAGTCTTTAACTATATATATATA,NC_000008.11:27194382:TATATATATA:TATATATATATAGTCTTTATATATATA,NC_000008.11:27194382:TATATATATA:TATATATATATAGTCTTTATATATATATA,NC_000008.11:27194382:TATATATATA:TATATATATATATA
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
TA=0.00358/6 (Korea1K)
TA=0.00673/4 (NorthernSweden)
TA=0.00697/112 (TOMMO)
HGVS:: NC_000008.11:g.27194383TA[3], NC_000008.11:g.27194383TA[4], NC_000008.11:g.27194383TA[6], NC_000008.11:g.27194383_27194392TA[6]GTCTTTAACTATATATATATA[1], NC_000008.11:g.27194383_27194392TA[6]GTCTTTATATATATA[1], NC_000008.11:g.27194383_27194392TA[6]GTCTTTATATATATATA[1], NC_000008.11:g.27194383TA[7], NC_000008.10:g.27051900TA[3], NC_000008.10:g.27051900TA[4], NC_000008.10:g.27051900TA[6], NC_000008.10:g.27051900_27051909TA[6]GTCTTTAACTATATATATATA[1], NC_000008.10:g.27051900_27051909TA[6]GTCTTTATATATATA[1], NC_000008.10:g.27051900_27051909TA[6]GTCTTTATATATATATA[1], NC_000008.10:g.27051900TA[7]

Select item 149100084310.

rs1491000843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:27180497 (GRCh38)
8:27038014 (GRCh37)
Canonical SPDI:: NC_000008.11:27180496:A:C,NC_000008.11:27180496:A:G
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0./0 (Korea1K)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.27180497A>C, NC_000008.11:g.27180497A>G, NC_000008.10:g.27038014A>C, NC_000008.10:g.27038014A>G

Select item 149079170411.

rs1490791704 has merged into rs35243176 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATAGTCTTTAACTATATATATATA,TATATAGTCTTTATATATATA,TATATAGTCTTTATATATATATA,TATATATA [Show Flanks]
Chromosome:: 8:27194389 (GRCh38)
8:27051906 (GRCh37)
Canonical SPDI:: NC_000008.11:27194382:TATATATATA:TATATA,NC_000008.11:27194382:TATATATATA:TATATATA,NC_000008.11:27194382:TATATATATA:TATATATATATA,NC_000008.11:27194382:TATATATATA:TATATATATATAGTCTTTAACTATATATATATA,NC_000008.11:27194382:TATATATATA:TATATATATATAGTCTTTATATATATA,NC_000008.11:27194382:TATATATATA:TATATATATATAGTCTTTATATATATATA,NC_000008.11:27194382:TATATATATA:TATATATATATATA
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
TA=0.00358/6 (Korea1K)
TA=0.00673/4 (NorthernSweden)
TA=0.00697/112 (TOMMO)
HGVS:: NC_000008.11:g.27194383TA[3], NC_000008.11:g.27194383TA[4], NC_000008.11:g.27194383TA[6], NC_000008.11:g.27194383_27194392TA[6]GTCTTTAACTATATATATATA[1], NC_000008.11:g.27194383_27194392TA[6]GTCTTTATATATATA[1], NC_000008.11:g.27194383_27194392TA[6]GTCTTTATATATATATA[1], NC_000008.11:g.27194383TA[7], NC_000008.10:g.27051900TA[3], NC_000008.10:g.27051900TA[4], NC_000008.10:g.27051900TA[6], NC_000008.10:g.27051900_27051909TA[6]GTCTTTAACTATATATATATA[1], NC_000008.10:g.27051900_27051909TA[6]GTCTTTATATATATA[1], NC_000008.10:g.27051900_27051909TA[6]GTCTTTATATATATATA[1], NC_000008.10:g.27051900TA[7]

Select item 149079164212.

rs1490791642 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:27187753 (GRCh38)
8:27045270 (GRCh37)
Canonical SPDI:: NC_000008.11:27187752:A:G
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.27187753A>G, NC_000008.10:g.27045270A>G

Select item 149076919413.

rs1490769194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:27173688 (GRCh38)
8:27031205 (GRCh37)
Canonical SPDI:: NC_000008.11:27173687:G:A
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.27173688G>A, NC_000008.10:g.27031205G>A

Select item 149069737814.

rs1490697378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:27172692 (GRCh38)
8:27030209 (GRCh37)
Canonical SPDI:: NC_000008.11:27172691:T:C
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.010267/30 (KOREAN)
HGVS:: NC_000008.11:g.27172692T>C, NC_000008.10:g.27030209T>C

Select item 149067021515.

rs1490670215 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTTGA>- [Show Flanks]
Chromosome:: 8:27199594 (GRCh38)
8:27057111 (GRCh37)
Canonical SPDI:: NC_000008.11:27199593:TTTTGA:
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00016/2 (TOMMO)
HGVS:: NC_000008.11:g.27199594_27199599del, NC_000008.10:g.27057111_27057116del

Select item 149065454016.

rs1490654540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:27189364 (GRCh38)
8:27046881 (GRCh37)
Canonical SPDI:: NC_000008.11:27189363:A:G
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.27189364A>G, NC_000008.10:g.27046881A>G

Select item 149053524717.

rs1490535247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:27173122 (GRCh38)
8:27030639 (GRCh37)
Canonical SPDI:: NC_000008.11:27173121:G:A
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.27173122G>A, NC_000008.10:g.27030639G>A

Select item 149045119718.

rs1490451197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:27195888 (GRCh38)
8:27053405 (GRCh37)
Canonical SPDI:: NC_000008.11:27195887:A:G
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000015/2 (GnomAD)
HGVS:: NC_000008.11:g.27195888A>G, NC_000008.10:g.27053405A>G

Select item 149043937919.

rs1490439379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:27209651 (GRCh38)
8:27067168 (GRCh37)
Canonical SPDI:: NC_000008.11:27209650:C:T
Gene:: LOC105379340 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.27209651C>T, NC_000008.10:g.27067168C>T

Select item 149037980620.

rs1490379806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:27194848 (GRCh38)
8:27052365 (GRCh37)
Canonical SPDI:: NC_000008.11:27194847:G:A
Gene:: LOC105379340 (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_000008.11:g.27194848G>A, NC_000008.10:g.27052365G>A

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