SNP Links for Gene (Select 84072) - SNP

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Select item 14915525611.

rs1491552561 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:150716954 (GRCh38)
1:150689430 (GRCh37)
Canonical SPDI:: NC_000001.11:150716953:CA:
Gene:: HORMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.150716954_150716955del, NC_000001.10:g.150689430_150689431del

Select item 14910987622.

rs1491098762 has merged into rs201641273 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 1:150705537 (GRCh38)
1:150678013 (GRCh37)
Canonical SPDI:: NC_000001.11:150705525:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:150705525:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:150705525:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:150705525:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:150705525:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:150705525:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:150705525:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: HORMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.3742/223 (NorthernSweden)
-=0.4499/2253 (1000Genomes)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000001.11:g.150705537_150705539del, NC_000001.11:g.150705538_150705539del, NC_000001.11:g.150705539del, NC_000001.11:g.150705539dup, NC_000001.11:g.150705538_150705539dup, NC_000001.11:g.150705537_150705539dup, NC_000001.11:g.150705532_150705539dup, NC_000001.10:g.150678013_150678015del, NC_000001.10:g.150678014_150678015del, NC_000001.10:g.150678015del, NC_000001.10:g.150678015dup, NC_000001.10:g.150678014_150678015dup, NC_000001.10:g.150678013_150678015dup, NC_000001.10:g.150678008_150678015dup

Select item 14910968423.

rs1491096842 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:150704198 (GRCh38)
1:150676674 (GRCh37)
Canonical SPDI:: NC_000001.11:150704197:TA:
Gene:: HORMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00003/1 (ExAC)
HGVS:: NC_000001.11:g.150704198_150704199del, NC_000001.10:g.150676674_150676675del

Select item 14909066184.

rs1490906618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150720194 (GRCh38)
1:150692670 (GRCh37)
Canonical SPDI:: NC_000001.11:150720193:C:T
Gene:: HORMAD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150720194C>T, NC_000001.10:g.150692670C>T

Select item 14908608155.

rs1490860815 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:150701273 (GRCh38)
1:150673749 (GRCh37)
Canonical SPDI:: NC_000001.11:150701272:A:C
Gene:: HORMAD1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.150701273A>C, NC_000001.10:g.150673749A>C

Select item 14908564126.

rs1490856412 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150721083 (GRCh38)
1:150693559 (GRCh37)
Canonical SPDI:: NC_000001.11:150721082:T:C
Gene:: HORMAD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150721083T>C, NC_000001.10:g.150693559T>C

Select item 14906219677.

rs1490621967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:150718290 (GRCh38)
1:150690766 (GRCh37)
Canonical SPDI:: NC_000001.11:150718289:G:A,NC_000001.11:150718289:G:C
Gene:: HORMAD1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.150718290G>A, NC_000001.11:g.150718290G>C, NC_000001.10:g.150690766G>A, NC_000001.10:g.150690766G>C

Select item 14904997898.

rs1490499789 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150714590 (GRCh38)
1:150687066 (GRCh37)
Canonical SPDI:: NC_000001.11:150714589:T:C
Gene:: HORMAD1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.150714590T>C, NC_000001.10:g.150687066T>C

Select item 14903846549.

rs1490384654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150711306 (GRCh38)
1:150683782 (GRCh37)
Canonical SPDI:: NC_000001.11:150711305:T:C
Gene:: HORMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150711306T>C, NC_000001.10:g.150683782T>C

Select item 149004339810.

rs1490043398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:150721371 (GRCh38)
1:150693847 (GRCh37)
Canonical SPDI:: NC_000001.11:150721370:C:A
Gene:: HORMAD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150721371C>A, NC_000001.10:g.150693847C>A

Select item 148992670011.

rs1489926700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:150705681 (GRCh38)
1:150678157 (GRCh37)
Canonical SPDI:: NC_000001.11:150705680:A:T
Gene:: HORMAD1 (Varview)
Functional Consequence:: 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_000001.11:g.150705681A>T, NC_000001.10:g.150678157A>T

Select item 148989449312.

rs1489894493 has merged into rs1420723016 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 1:150721941 (GRCh38)
1:150694417 (GRCh37)
Canonical SPDI:: NC_000001.11:150721940:AAAAAAAA:AAAAAAA,NC_000001.11:150721940:AAAAAAAA:AAAAAAAAA
Gene:: HORMAD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.150721948del, NC_000001.11:g.150721948dup, NC_000001.10:g.150694424del, NC_000001.10:g.150694424dup

Select item 148977218413.

rs1489772184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:150713156 (GRCh38)
1:150685632 (GRCh37)
Canonical SPDI:: NC_000001.11:150713155:C:A
Gene:: HORMAD1 (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_000001.11:g.150713156C>A, NC_000001.10:g.150685632C>A

Select item 148960756314.

rs1489607563 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:150703986 (GRCh38)
1:150676462 (GRCh37)
Canonical SPDI:: NC_000001.11:150703985:T:
Gene:: HORMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150703986del, NC_000001.10:g.150676462del

Select item 148956598415.

rs1489565984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:150718686 (GRCh38)
1:150691162 (GRCh37)
Canonical SPDI:: NC_000001.11:150718685:G:C
Gene:: HORMAD1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_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_000001.11:g.150718686G>C, NC_000001.10:g.150691162G>C

Select item 148929543916.

rs1489295439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150706609 (GRCh38)
1:150679085 (GRCh37)
Canonical SPDI:: NC_000001.11:150706608:A:G
Gene:: HORMAD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.150706609A>G, NC_000001.10:g.150679085A>G, NM_032132.5:c.748T>C, NM_032132.4:c.748T>C, XM_011510054.3:c.748T>C, XM_011510054.2:c.748T>C, XM_011510054.1:c.748T>C, NM_001199829.2:c.727T>C, NM_001199829.1:c.727T>C, XM_047431808.1:c.748T>C, XM_047431810.1:c.727T>C, XM_047431843.1:c.505T>C, XM_047431838.1:c.505T>C, XM_047431831.1:c.535T>C, XM_047431836.1:c.514T>C, XM_047431845.1:c.451T>C, XM_047431828.1:c.727T>C, XM_047431814.1:c.748T>C, XM_047431826.1:c.727T>C, NP_115508.2:p.Phe250Leu, XP_011508356.1:p.Phe250Leu, NP_001186758.1:p.Phe243Leu, XP_047287764.1:p.Phe250Leu, XP_047287766.1:p.Phe243Leu, XP_047287799.1:p.Phe169Leu, XP_047287794.1:p.Phe169Leu, XP_047287787.1:p.Phe179Leu, XP_047287792.1:p.Phe172Leu, XP_047287801.1:p.Phe151Leu, XP_047287784.1:p.Phe243Leu, XP_047287770.1:p.Phe250Leu, XP_047287782.1:p.Phe243Leu

Select item 148924895517.

rs1489248955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150722816 (GRCh38)
1:150695292 (GRCh37)
Canonical SPDI:: NC_000001.11:150722815:C:T
Gene:: HORMAD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150722816C>T, NC_000001.10:g.150695292C>T

Select item 148913143518.

rs1489131435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150704158 (GRCh38)
1:150676634 (GRCh37)
Canonical SPDI:: NC_000001.11:150704157:C:T
Gene:: HORMAD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150704158C>T, NC_000001.10:g.150676634C>T, NM_032132.5:c.908G>A, NM_032132.4:c.908G>A, XM_011510054.3:c.908G>A, XM_011510054.2:c.908G>A, XM_011510054.1:c.908G>A, NM_001199829.2:c.887G>A, NM_001199829.1:c.887G>A, XM_047431808.1:c.908G>A, XM_047431810.1:c.887G>A, XM_047431843.1:c.665G>A, XM_047431838.1:c.665G>A, XM_047431831.1:c.695G>A, XM_047431836.1:c.674G>A, XM_047431845.1:c.611G>A, XM_047431828.1:c.887G>A, XM_047431814.1:c.908G>A, XM_047431826.1:c.887G>A, NP_115508.2:p.Arg303Lys, XP_011508356.1:p.Arg303Lys, NP_001186758.1:p.Arg296Lys, XP_047287764.1:p.Arg303Lys, XP_047287766.1:p.Arg296Lys, XP_047287799.1:p.Arg222Lys, XP_047287794.1:p.Arg222Lys, XP_047287787.1:p.Arg232Lys, XP_047287792.1:p.Arg225Lys, XP_047287801.1:p.Arg204Lys, XP_047287784.1:p.Arg296Lys, XP_047287770.1:p.Arg303Lys, XP_047287782.1:p.Arg296Lys

Select item 148902750019.

rs1489027500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:150697717 (GRCh38)
1:150670193 (GRCh37)
Canonical SPDI:: NC_000001.11:150697716:T:A
Gene:: GOLPH3L (Varview), HORMAD1 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.150697717T>A, NC_000001.10:g.150670193T>A

Select item 148901460720.

rs1489014607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150713796 (GRCh38)
1:150686272 (GRCh37)
Canonical SPDI:: NC_000001.11:150713795:T:C
Gene:: HORMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150713796T>C, NC_000001.10:g.150686272T>C

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