SNP Links for Protein (Select 22749067) - SNP

Select item 14864281681.

rs1486428168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:30122190 (GRCh38)
22:30518179 (GRCh37)
Canonical SPDI:: NC_000022.11:30122189:T:C
Gene:: HORMAD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000022.11:g.30122190T>C, NC_000022.10:g.30518179T>C, NM_152510.4:c.795T>C, NM_152510.3:c.795T>C, NM_152510.2:c.795T>C, XM_011529914.3:c.795T>C, XM_011529914.2:c.795T>C, XM_011529914.1:c.795T>C, NM_001329457.2:c.795T>C, NM_001329457.1:c.795T>C, NM_001329458.2:c.531T>C, NM_001329458.1:c.531T>C, XM_017028622.2:c.795T>C, XM_017028622.1:c.795T>C, XM_017028625.2:c.483T>C, XM_017028625.1:c.483T>C, XM_017028626.2:c.393T>C, XM_017028626.1:c.393T>C, XM_047441156.1:c.795T>C, XM_047441154.1:c.795T>C, XM_047441155.1:c.795T>C, XM_047441157.1:c.531T>C

Select item 14859663972.

rs1485966397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 22:30121765 (GRCh38)
22:30517754 (GRCh37)
Canonical SPDI:: NC_000022.11:30121764:A:G,NC_000022.11:30121764:A:T
Gene:: HORMAD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.30121765A>G, NC_000022.11:g.30121765A>T, NC_000022.10:g.30517754A>G, NC_000022.10:g.30517754A>T, NM_152510.4:c.544A>G, NM_152510.4:c.544A>T, NM_152510.3:c.544A>G, NM_152510.3:c.544A>T, NM_152510.2:c.544A>G, NM_152510.2:c.544A>T, XM_011529914.3:c.544A>G, XM_011529914.3:c.544A>T, XM_011529914.2:c.544A>G, XM_011529914.2:c.544A>T, XM_011529914.1:c.544A>G, XM_011529914.1:c.544A>T, NM_001329457.2:c.544A>G, NM_001329457.2:c.544A>T, NM_001329457.1:c.544A>G, NM_001329457.1:c.544A>T, NM_001329458.2:c.280A>G, NM_001329458.2:c.280A>T, NM_001329458.1:c.280A>G, NM_001329458.1:c.280A>T, XM_017028622.2:c.544A>G, XM_017028622.2:c.544A>T, XM_017028622.1:c.544A>G, XM_017028622.1:c.544A>T, XM_017028625.2:c.232A>G, XM_017028625.2:c.232A>T, XM_017028625.1:c.232A>G, XM_017028625.1:c.232A>T, XM_017028626.2:c.142A>G, XM_017028626.2:c.142A>T, XM_017028626.1:c.142A>G, XM_017028626.1:c.142A>T, XM_047441156.1:c.544A>G, XM_047441156.1:c.544A>T, XM_047441154.1:c.544A>G, XM_047441154.1:c.544A>T, XM_047441155.1:c.544A>G, XM_047441155.1:c.544A>T, XM_047441157.1:c.280A>G, XM_047441157.1:c.280A>T, NP_689723.1:p.Met182Val, NP_689723.1:p.Met182Leu, XP_011528216.1:p.Met182Val, XP_011528216.1:p.Met182Leu, NP_001316386.1:p.Met182Val, NP_001316386.1:p.Met182Leu, NP_001316387.1:p.Met94Val, NP_001316387.1:p.Met94Leu, XP_016884111.1:p.Met182Val, XP_016884111.1:p.Met182Leu, XP_016884114.1:p.Met78Val, XP_016884114.1:p.Met78Leu, XP_016884115.1:p.Met48Val, XP_016884115.1:p.Met48Leu, XP_047297112.1:p.Met182Val, XP_047297112.1:p.Met182Leu, XP_047297110.1:p.Met182Val, XP_047297110.1:p.Met182Leu, XP_047297111.1:p.Met182Val, XP_047297111.1:p.Met182Leu, XP_047297113.1:p.Met94Val, XP_047297113.1:p.Met94Leu

Select item 14854516563.

rs1485451656 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:30121768 (GRCh38)
22:30517757 (GRCh37)
Canonical SPDI:: NC_000022.11:30121767:A:G
Gene:: HORMAD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30121768A>G, NC_000022.10:g.30517757A>G, NM_152510.4:c.547A>G, NM_152510.3:c.547A>G, NM_152510.2:c.547A>G, XM_011529914.3:c.547A>G, XM_011529914.2:c.547A>G, XM_011529914.1:c.547A>G, NM_001329457.2:c.547A>G, NM_001329457.1:c.547A>G, NM_001329458.2:c.283A>G, NM_001329458.1:c.283A>G, XM_017028622.2:c.547A>G, XM_017028622.1:c.547A>G, XM_017028625.2:c.235A>G, XM_017028625.1:c.235A>G, XM_017028626.2:c.145A>G, XM_017028626.1:c.145A>G, XM_047441156.1:c.547A>G, XM_047441154.1:c.547A>G, XM_047441155.1:c.547A>G, XM_047441157.1:c.283A>G, NP_689723.1:p.Lys183Glu, XP_011528216.1:p.Lys183Glu, NP_001316386.1:p.Lys183Glu, NP_001316387.1:p.Lys95Glu, XP_016884111.1:p.Lys183Glu, XP_016884114.1:p.Lys79Glu, XP_016884115.1:p.Lys49Glu, XP_047297112.1:p.Lys183Glu, XP_047297110.1:p.Lys183Glu, XP_047297111.1:p.Lys183Glu, XP_047297113.1:p.Lys95Glu

Select item 14848344194.

rs1484834419 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:30119007 (GRCh38)
22:30514996 (GRCh37)
Canonical SPDI:: NC_000022.11:30119006:T:C
Gene:: HORMAD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30119007T>C, NC_000022.10:g.30514996T>C, NM_152510.4:c.370T>C, NM_152510.3:c.370T>C, NM_152510.2:c.370T>C, XM_011529914.3:c.370T>C, XM_011529914.2:c.370T>C, XM_011529914.1:c.370T>C, NM_001329457.2:c.370T>C, NM_001329457.1:c.370T>C, NM_001329458.2:c.106T>C, NM_001329458.1:c.106T>C, XM_017028622.2:c.370T>C, XM_017028622.1:c.370T>C, XM_017028625.2:c.58T>C, XM_017028625.1:c.58T>C, XM_047441156.1:c.370T>C, XM_047441154.1:c.370T>C, XM_047441155.1:c.370T>C, XM_047441157.1:c.106T>C, NP_689723.1:p.Phe124Leu, XP_011528216.1:p.Phe124Leu, NP_001316386.1:p.Phe124Leu, NP_001316387.1:p.Phe36Leu, XP_016884111.1:p.Phe124Leu, XP_016884114.1:p.Phe20Leu, XP_047297112.1:p.Phe124Leu, XP_047297110.1:p.Phe124Leu, XP_047297111.1:p.Phe124Leu, XP_047297113.1:p.Phe36Leu

Select item 14830070185.

rs1483007018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30122025 (GRCh38)
22:30518014 (GRCh37)
Canonical SPDI:: NC_000022.11:30122024:G:A
Gene:: HORMAD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000022.11:g.30122025G>A, NC_000022.10:g.30518014G>A, NM_152510.4:c.630G>A, NM_152510.3:c.630G>A, NM_152510.2:c.630G>A, XM_011529914.3:c.630G>A, XM_011529914.2:c.630G>A, XM_011529914.1:c.630G>A, NM_001329457.2:c.630G>A, NM_001329457.1:c.630G>A, NM_001329458.2:c.366G>A, NM_001329458.1:c.366G>A, XM_017028622.2:c.630G>A, XM_017028622.1:c.630G>A, XM_017028625.2:c.318G>A, XM_017028625.1:c.318G>A, XM_017028626.2:c.228G>A, XM_017028626.1:c.228G>A, XM_047441156.1:c.630G>A, XM_047441154.1:c.630G>A, XM_047441155.1:c.630G>A, XM_047441157.1:c.366G>A

Select item 14828775496.

rs1482877549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:30104408 (GRCh38)
22:30500397 (GRCh37)
Canonical SPDI:: NC_000022.11:30104407:G:T
Gene:: HORMAD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_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_000022.11:g.30104408G>T, NC_000022.10:g.30500397G>T, NM_152510.4:c.265G>T, NM_152510.3:c.265G>T, NM_152510.2:c.265G>T, XM_011529914.3:c.265G>T, XM_011529914.2:c.265G>T, XM_011529914.1:c.265G>T, NM_001329457.2:c.265G>T, NM_001329457.1:c.265G>T, XM_017028622.2:c.265G>T, XM_017028622.1:c.265G>T, XM_047441156.1:c.265G>T, XM_047441154.1:c.265G>T, XM_047441155.1:c.265G>T, NP_689723.1:p.Gly89Cys, XP_011528216.1:p.Gly89Cys, NP_001316386.1:p.Gly89Cys, XP_016884111.1:p.Gly89Cys, XP_047297112.1:p.Gly89Cys, XP_047297110.1:p.Gly89Cys, XP_047297111.1:p.Gly89Cys

Select item 14806466867.

rs1480646686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:30119040 (GRCh38)
22:30515029 (GRCh37)
Canonical SPDI:: NC_000022.11:30119039:T:A
Gene:: HORMAD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30119040T>A, NC_000022.10:g.30515029T>A, NM_152510.4:c.403T>A, NM_152510.3:c.403T>A, NM_152510.2:c.403T>A, XM_011529914.3:c.403T>A, XM_011529914.2:c.403T>A, XM_011529914.1:c.403T>A, NM_001329457.2:c.403T>A, NM_001329457.1:c.403T>A, NM_001329458.2:c.139T>A, NM_001329458.1:c.139T>A, XM_017028622.2:c.403T>A, XM_017028622.1:c.403T>A, XM_017028625.2:c.91T>A, XM_017028625.1:c.91T>A, XM_047441156.1:c.403T>A, XM_047441154.1:c.403T>A, XM_047441155.1:c.403T>A, XM_047441157.1:c.139T>A, NP_689723.1:p.Phe135Ile, XP_011528216.1:p.Phe135Ile, NP_001316386.1:p.Phe135Ile, NP_001316387.1:p.Phe47Ile, XP_016884111.1:p.Phe135Ile, XP_016884114.1:p.Phe31Ile, XP_047297112.1:p.Phe135Ile, XP_047297110.1:p.Phe135Ile, XP_047297111.1:p.Phe135Ile, XP_047297113.1:p.Phe47Ile

Select item 14768344898.

rs1476834489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 22:30122083 (GRCh38)
22:30518072 (GRCh37)
Canonical SPDI:: NC_000022.11:30122082:A:C,NC_000022.11:30122082:A:G
Gene:: HORMAD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30122083A>C, NC_000022.11:g.30122083A>G, NC_000022.10:g.30518072A>C, NC_000022.10:g.30518072A>G, NM_152510.4:c.688A>C, NM_152510.4:c.688A>G, NM_152510.3:c.688A>C, NM_152510.3:c.688A>G, NM_152510.2:c.688A>C, NM_152510.2:c.688A>G, XM_011529914.3:c.688A>C, XM_011529914.3:c.688A>G, XM_011529914.2:c.688A>C, XM_011529914.2:c.688A>G, XM_011529914.1:c.688A>C, XM_011529914.1:c.688A>G, NM_001329457.2:c.688A>C, NM_001329457.2:c.688A>G, NM_001329457.1:c.688A>C, NM_001329457.1:c.688A>G, NM_001329458.2:c.424A>C, NM_001329458.2:c.424A>G, NM_001329458.1:c.424A>C, NM_001329458.1:c.424A>G, XM_017028622.2:c.688A>C, XM_017028622.2:c.688A>G, XM_017028622.1:c.688A>C, XM_017028622.1:c.688A>G, XM_017028625.2:c.376A>C, XM_017028625.2:c.376A>G, XM_017028625.1:c.376A>C, XM_017028625.1:c.376A>G, XM_017028626.2:c.286A>C, XM_017028626.2:c.286A>G, XM_017028626.1:c.286A>C, XM_017028626.1:c.286A>G, XM_047441156.1:c.688A>C, XM_047441156.1:c.688A>G, XM_047441154.1:c.688A>C, XM_047441154.1:c.688A>G, XM_047441155.1:c.688A>C, XM_047441155.1:c.688A>G, XM_047441157.1:c.424A>C, XM_047441157.1:c.424A>G, NP_689723.1:p.Met230Leu, NP_689723.1:p.Met230Val, XP_011528216.1:p.Met230Leu, XP_011528216.1:p.Met230Val, NP_001316386.1:p.Met230Leu, NP_001316386.1:p.Met230Val, NP_001316387.1:p.Met142Leu, NP_001316387.1:p.Met142Val, XP_016884111.1:p.Met230Leu, XP_016884111.1:p.Met230Val, XP_016884114.1:p.Met126Leu, XP_016884114.1:p.Met126Val, XP_016884115.1:p.Met96Leu, XP_016884115.1:p.Met96Val, XP_047297112.1:p.Met230Leu, XP_047297112.1:p.Met230Val, XP_047297110.1:p.Met230Leu, XP_047297110.1:p.Met230Val, XP_047297111.1:p.Met230Leu, XP_047297111.1:p.Met230Val, XP_047297113.1:p.Met142Leu, XP_047297113.1:p.Met142Val

Select item 14765332059.

rs1476533205 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 22:30122106 (GRCh38)
22:30518095 (GRCh37)
Canonical SPDI:: NC_000022.11:30122105:GG:G
Gene:: HORMAD2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30122107del, NC_000022.10:g.30518096del, NM_152510.4:c.712del, NM_152510.3:c.712del, NM_152510.2:c.712del, XM_011529914.3:c.712del, XM_011529914.2:c.712del, XM_011529914.1:c.712del, NM_001329457.2:c.712del, NM_001329457.1:c.712del, NM_001329458.2:c.448del, NM_001329458.1:c.448del, XM_017028622.2:c.712del, XM_017028622.1:c.712del, XM_017028625.2:c.400del, XM_017028625.1:c.400del, XM_017028626.2:c.310del, XM_017028626.1:c.310del, XM_047441156.1:c.712del, XM_047441154.1:c.712del, XM_047441155.1:c.712del, XM_047441157.1:c.448del, NP_689723.1:p.Ala238fs, XP_011528216.1:p.Ala238fs, NP_001316386.1:p.Ala238fs, NP_001316387.1:p.Ala150fs, XP_016884111.1:p.Ala238fs, XP_016884114.1:p.Ala134fs, XP_016884115.1:p.Ala104fs, XP_047297112.1:p.Ala238fs, XP_047297110.1:p.Ala238fs, XP_047297111.1:p.Ala238fs, XP_047297113.1:p.Ala150fs

Select item 147503668110.

rs1475036681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30121728 (GRCh38)
22:30517717 (GRCh37)
Canonical SPDI:: NC_000022.11:30121727:G:A
Gene:: HORMAD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30121728G>A, NC_000022.10:g.30517717G>A, NM_152510.4:c.507G>A, NM_152510.3:c.507G>A, NM_152510.2:c.507G>A, XM_011529914.3:c.507G>A, XM_011529914.2:c.507G>A, XM_011529914.1:c.507G>A, NM_001329457.2:c.507G>A, NM_001329457.1:c.507G>A, NM_001329458.2:c.243G>A, NM_001329458.1:c.243G>A, XM_017028622.2:c.507G>A, XM_017028622.1:c.507G>A, XM_017028625.2:c.195G>A, XM_017028625.1:c.195G>A, XM_017028626.2:c.105G>A, XM_017028626.1:c.105G>A, XM_047441156.1:c.507G>A, XM_047441154.1:c.507G>A, XM_047441155.1:c.507G>A, XM_047441157.1:c.243G>A

Select item 147265900911.

rs1472659009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:30093983 (GRCh38)
22:30489972 (GRCh37)
Canonical SPDI:: NC_000022.11:30093982:A:G
Gene:: HORMAD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30093983A>G, NC_000022.10:g.30489972A>G, NM_152510.4:c.31A>G, NM_152510.3:c.31A>G, NM_152510.2:c.31A>G, XM_011529914.3:c.31A>G, XM_011529914.2:c.31A>G, XM_011529914.1:c.31A>G, NM_001329457.2:c.31A>G, NM_001329457.1:c.31A>G, NM_001329458.2:c.-197A>G, NM_001329458.1:c.-197A>G, XM_017028622.2:c.31A>G, XM_017028622.1:c.31A>G, XM_047441156.1:c.31A>G, XM_047441154.1:c.31A>G, XM_047441155.1:c.31A>G, NP_689723.1:p.Thr11Ala, XP_011528216.1:p.Thr11Ala, NP_001316386.1:p.Thr11Ala, XP_016884111.1:p.Thr11Ala, XP_047297112.1:p.Thr11Ala, XP_047297110.1:p.Thr11Ala, XP_047297111.1:p.Thr11Ala

Select item 147193913912.

rs1471939139 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:30122094 (GRCh38)
22:30518083 (GRCh37)
Canonical SPDI:: NC_000022.11:30122093:A:T
Gene:: HORMAD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000022.11:g.30122094A>T, NC_000022.10:g.30518083A>T, NM_152510.4:c.699A>T, NM_152510.3:c.699A>T, NM_152510.2:c.699A>T, XM_011529914.3:c.699A>T, XM_011529914.2:c.699A>T, XM_011529914.1:c.699A>T, NM_001329457.2:c.699A>T, NM_001329457.1:c.699A>T, NM_001329458.2:c.435A>T, NM_001329458.1:c.435A>T, XM_017028622.2:c.699A>T, XM_017028622.1:c.699A>T, XM_017028625.2:c.387A>T, XM_017028625.1:c.387A>T, XM_017028626.2:c.297A>T, XM_017028626.1:c.297A>T, XM_047441156.1:c.699A>T, XM_047441154.1:c.699A>T, XM_047441155.1:c.699A>T, XM_047441157.1:c.435A>T, NP_689723.1:p.Lys233Asn, XP_011528216.1:p.Lys233Asn, NP_001316386.1:p.Lys233Asn, NP_001316387.1:p.Lys145Asn, XP_016884111.1:p.Lys233Asn, XP_016884114.1:p.Lys129Asn, XP_016884115.1:p.Lys99Asn, XP_047297112.1:p.Lys233Asn, XP_047297110.1:p.Lys233Asn, XP_047297111.1:p.Lys233Asn, XP_047297113.1:p.Lys145Asn

Select item 147036719413.

rs1470367194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:30122207 (GRCh38)
22:30518196 (GRCh37)
Canonical SPDI:: NC_000022.11:30122206:A:G
Gene:: HORMAD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30122207A>G, NC_000022.10:g.30518196A>G, NM_152510.4:c.812A>G, NM_152510.3:c.812A>G, NM_152510.2:c.812A>G, XM_011529914.3:c.812A>G, XM_011529914.2:c.812A>G, XM_011529914.1:c.812A>G, NM_001329457.2:c.812A>G, NM_001329457.1:c.812A>G, NM_001329458.2:c.548A>G, NM_001329458.1:c.548A>G, XM_017028622.2:c.812A>G, XM_017028622.1:c.812A>G, XM_017028625.2:c.500A>G, XM_017028625.1:c.500A>G, XM_017028626.2:c.410A>G, XM_017028626.1:c.410A>G, XM_047441156.1:c.812A>G, XM_047441154.1:c.812A>G, XM_047441155.1:c.812A>G, XM_047441157.1:c.548A>G, NP_689723.1:p.Asn271Ser, XP_011528216.1:p.Asn271Ser, NP_001316386.1:p.Asn271Ser, NP_001316387.1:p.Asn183Ser, XP_016884111.1:p.Asn271Ser, XP_016884114.1:p.Asn167Ser, XP_016884115.1:p.Asn137Ser, XP_047297112.1:p.Asn271Ser, XP_047297110.1:p.Asn271Ser, XP_047297111.1:p.Asn271Ser, XP_047297113.1:p.Asn183Ser

Select item 146686162214.

rs1466861622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30098934 (GRCh38)
22:30494923 (GRCh37)
Canonical SPDI:: NC_000022.11:30098933:G:A
Gene:: HORMAD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.30098934G>A, NC_000022.10:g.30494923G>A, NM_152510.4:c.134G>A, NM_152510.3:c.134G>A, NM_152510.2:c.134G>A, XM_011529914.3:c.134G>A, XM_011529914.2:c.134G>A, XM_011529914.1:c.134G>A, NM_001329457.2:c.134G>A, NM_001329457.1:c.134G>A, NM_001329458.2:c.-94G>A, NM_001329458.1:c.-94G>A, XM_017028622.2:c.134G>A, XM_017028622.1:c.134G>A, XM_017028625.2:c.-94G>A, XM_017028625.1:c.-94G>A, XM_047441156.1:c.134G>A, XM_047441154.1:c.134G>A, XM_047441155.1:c.134G>A, XM_047441157.1:c.-94G>A, NP_689723.1:p.Cys45Tyr, XP_011528216.1:p.Cys45Tyr, NP_001316386.1:p.Cys45Tyr, XP_016884111.1:p.Cys45Tyr, XP_047297112.1:p.Cys45Tyr, XP_047297110.1:p.Cys45Tyr, XP_047297111.1:p.Cys45Tyr

Select item 146559456115.

rs1465594561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30111811 (GRCh38)
22:30507800 (GRCh37)
Canonical SPDI:: NC_000022.11:30111810:C:T
Gene:: HORMAD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.30111811C>T, NC_000022.10:g.30507800C>T, NM_152510.4:c.310C>T, NM_152510.3:c.310C>T, NM_152510.2:c.310C>T, XM_011529914.3:c.310C>T, XM_011529914.2:c.310C>T, XM_011529914.1:c.310C>T, NM_001329457.2:c.310C>T, NM_001329457.1:c.310C>T, NM_001329458.2:c.46C>T, NM_001329458.1:c.46C>T, XM_017028622.2:c.310C>T, XM_017028622.1:c.310C>T, XM_047441156.1:c.310C>T, XM_047441154.1:c.310C>T, XM_047441155.1:c.310C>T, XM_047441157.1:c.46C>T

Select item 145842844216.

rs1458428442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:30098962 (GRCh38)
22:30494951 (GRCh37)
Canonical SPDI:: NC_000022.11:30098961:A:C
Gene:: HORMAD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30098962A>C, NC_000022.10:g.30494951A>C, NM_152510.4:c.162A>C, NM_152510.3:c.162A>C, NM_152510.2:c.162A>C, XM_011529914.3:c.162A>C, XM_011529914.2:c.162A>C, XM_011529914.1:c.162A>C, NM_001329457.2:c.162A>C, NM_001329457.1:c.162A>C, NM_001329458.2:c.-66A>C, NM_001329458.1:c.-66A>C, XM_017028622.2:c.162A>C, XM_017028622.1:c.162A>C, XM_017028625.2:c.-66A>C, XM_017028625.1:c.-66A>C, XM_047441156.1:c.162A>C, XM_047441154.1:c.162A>C, XM_047441155.1:c.162A>C, XM_047441157.1:c.-66A>C

Select item 145712375717.

rs1457123757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 22:30176103 (GRCh38)
22:30572092 (GRCh37)
Canonical SPDI:: NC_000022.11:30176102:A:G,NC_000022.11:30176102:A:T
Gene:: HORMAD2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30176103A>G, NC_000022.11:g.30176103A>T, NC_000022.10:g.30572092A>G, NC_000022.10:g.30572092A>T, NM_152510.4:c.860A>G, NM_152510.4:c.860A>T, NM_152510.3:c.860A>G, NM_152510.3:c.860A>T, NM_152510.2:c.860A>G, NM_152510.2:c.860A>T, NM_001329457.2:c.860A>G, NM_001329457.2:c.860A>T, NM_001329457.1:c.860A>G, NM_001329457.1:c.860A>T, NM_001329458.2:c.596A>G, NM_001329458.2:c.596A>T, NM_001329458.1:c.596A>G, NM_001329458.1:c.596A>T, XM_047441156.1:c.860A>G, XM_047441156.1:c.860A>T, NP_689723.1:p.Glu287Gly, NP_689723.1:p.Glu287Val, NP_001316386.1:p.Glu287Gly, NP_001316386.1:p.Glu287Val, NP_001316387.1:p.Glu199Gly, NP_001316387.1:p.Glu199Val, XP_047297112.1:p.Glu287Gly, XP_047297112.1:p.Glu287Val

Select item 145410348018.

rs1454103480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:30112506 (GRCh38)
22:30508495 (GRCh37)
Canonical SPDI:: NC_000022.11:30112505:A:T
Gene:: HORMAD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.30112506A>T, NC_000022.10:g.30508495A>T, NM_152510.4:c.326A>T, NM_152510.3:c.326A>T, NM_152510.2:c.326A>T, XM_011529914.3:c.326A>T, XM_011529914.2:c.326A>T, XM_011529914.1:c.326A>T, NM_001329457.2:c.326A>T, NM_001329457.1:c.326A>T, NM_001329458.2:c.62A>T, NM_001329458.1:c.62A>T, XM_017028622.2:c.326A>T, XM_017028622.1:c.326A>T, XM_047441156.1:c.326A>T, XM_047441154.1:c.326A>T, XM_047441155.1:c.326A>T, XM_047441157.1:c.62A>T, NP_689723.1:p.Asp109Val, XP_011528216.1:p.Asp109Val, NP_001316386.1:p.Asp109Val, NP_001316387.1:p.Asp21Val, XP_016884111.1:p.Asp109Val, XP_047297112.1:p.Asp109Val, XP_047297110.1:p.Asp109Val, XP_047297111.1:p.Asp109Val, XP_047297113.1:p.Asp21Val

Select item 145073998419.

rs1450739984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:30176079 (GRCh38)
22:30572068 (GRCh37)
Canonical SPDI:: NC_000022.11:30176078:T:C
Gene:: HORMAD2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.30176079T>C, NC_000022.10:g.30572068T>C, NM_152510.4:c.836T>C, NM_152510.3:c.836T>C, NM_152510.2:c.836T>C, NM_001329457.2:c.836T>C, NM_001329457.1:c.836T>C, NM_001329458.2:c.572T>C, NM_001329458.1:c.572T>C, XM_047441156.1:c.836T>C, NP_689723.1:p.Phe279Ser, NP_001316386.1:p.Phe279Ser, NP_001316387.1:p.Phe191Ser, XP_047297112.1:p.Phe279Ser

Select item 144805123820.

rs1448051238 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:30122088 (GRCh38)
22:30518077 (GRCh37)
Canonical SPDI:: NC_000022.11:30122087:A:G
Gene:: HORMAD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.30122088A>G, NC_000022.10:g.30518077A>G, NM_152510.4:c.693A>G, NM_152510.3:c.693A>G, NM_152510.2:c.693A>G, XM_011529914.3:c.693A>G, XM_011529914.2:c.693A>G, XM_011529914.1:c.693A>G, NM_001329457.2:c.693A>G, NM_001329457.1:c.693A>G, NM_001329458.2:c.429A>G, NM_001329458.1:c.429A>G, XM_017028622.2:c.693A>G, XM_017028622.1:c.693A>G, XM_017028625.2:c.381A>G, XM_017028625.1:c.381A>G, XM_017028626.2:c.291A>G, XM_017028626.1:c.291A>G, XM_047441156.1:c.693A>G, XM_047441154.1:c.693A>G, XM_047441155.1:c.693A>G, XM_047441157.1:c.429A>G

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Result Filters

Clinical Significance

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Global MAF

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Items: 1 to 20 of 299

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