SNP Links for Gene (Select 619189) - SNP

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Select item 14913875761.

rs1491387576 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:43799152 (GRCh38)
15:44091351 (GRCh37)
Canonical SPDI:: NC_000015.10:43799152::T
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000013/2 (GnomAD_exomes)
T=0.00005/7 (GnomAD)
HGVS:: NC_000015.10:g.43799152_43799153insT, NC_000015.9:g.44091350_44091351insT

Select item 14906699152.

rs1490669915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:43796313 (GRCh38)
15:44088511 (GRCh37)
Canonical SPDI:: NC_000015.10:43796312:T:A
Gene:: SERF2 (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.43796313T>A, NC_000015.9:g.44088511T>A

Select item 14900338603.

rs1490033860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43794551 (GRCh38)
15:44086749 (GRCh37)
Canonical SPDI:: NC_000015.10:43794550:T:C
Gene:: SERF2 (Varview), SERINC4 (Varview), MIR1282 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.43794551T>C, NC_000015.9:g.44086749T>C, NM_001018108.4:c.*778T>C, NM_001018108.3:c.*778T>C, NM_001199877.2:c.*778T>C, NM_001199877.1:c.*778T>C, NM_001199878.2:c.*778T>C, NM_001199878.1:c.*778T>C, NM_001258031.2:c.*449A>G, NM_001258031.1:c.*449A>G, NM_001258032.2:c.*449A>G, NM_001258032.1:c.*449A>G, NM_001199875.1:c.*579T>C, NM_001199876.1:c.*579T>C, NR_037672.1:n.922T>C

Select item 14899602134.

rs1489960213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43800602 (GRCh38)
15:44092800 (GRCh37)
Canonical SPDI:: NC_000015.10:43800601:C:T
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000015.10:g.43800602C>T, NC_000015.9:g.44092800C>T, NM_016400.4:c.-21C>T, NM_016400.3:c.4C>T, NR_037673.1:n.625C>T, NM_001199885.1:c.4C>T, NP_001186814.1:p.Arg2Trp

Select item 14898706265.

rs1489870626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:43794897 (GRCh38)
15:44087095 (GRCh37)
Canonical SPDI:: NC_000015.10:43794896:T:G
Gene:: SERF2 (Varview), SERINC4 (Varview), MIR1282 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.43794897T>G, NC_000015.9:g.44087095T>G, NM_001018108.4:c.*1124T>G, NM_001018108.3:c.*1124T>G, NM_001199877.2:c.*1124T>G, NM_001199877.1:c.*1124T>G, NM_001199878.2:c.*1124T>G, NM_001199878.1:c.*1124T>G, NM_001258031.2:c.*103A>C, NM_001258031.1:c.*103A>C, NM_001258032.2:c.*103A>C, NM_001258032.1:c.*103A>C, NM_001199875.1:c.*925T>G, NM_001199876.1:c.*925T>G, NR_037672.1:n.1268T>G

Select item 14897791426.

rs1489779142 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43799463 (GRCh38)
15:44091661 (GRCh37)
Canonical SPDI:: NC_000015.10:43799462:A:G
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,2KB_upstream_variant
HGVS:: NC_000015.10:g.43799463A>G, NC_000015.9:g.44091661A>G, NM_001258031.2:c.126T>C, NM_001258031.1:c.126T>C, NM_001258032.2:c.-395T>C, NM_001258032.1:c.-395T>C, NM_001033517.1:c.-395T>C

Select item 14897690037.

rs1489769003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43801933 (GRCh38)
15:44094131 (GRCh37)
Canonical SPDI:: NC_000015.10:43801932:A:G
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43801933A>G, NC_000015.9:g.44094131A>G, NM_016400.4:c.*127A>G, NM_016400.3:c.*127A>G, NR_037673.1:n.1138A>G, NM_001199885.1:c.*215A>G

Select item 14896868158.

rs1489686815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43800548 (GRCh38)
15:44092746 (GRCh37)
Canonical SPDI:: NC_000015.10:43800547:C:T
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43800548C>T, NC_000015.9:g.44092746C>T, NM_016400.3:c.-51C>T, NR_037673.1:n.571C>T, NM_001199885.1:c.-51C>T

Select item 14886317999.

rs1488631799 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43800978 (GRCh38)
15:44093176 (GRCh37)
Canonical SPDI:: NC_000015.10:43800977:A:G
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43800978A>G, NC_000015.9:g.44093176A>G

Select item 148830062510.

rs1488300625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:43797373 (GRCh38)
15:44089571 (GRCh37)
Canonical SPDI:: NC_000015.10:43797372:G:A,NC_000015.10:43797372:G:C
Gene:: SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000015.10:g.43797373G>A, NC_000015.10:g.43797373G>C, NC_000015.9:g.44089571G>A, NC_000015.9:g.44089571G>C

Select item 148825369611.

rs1488253696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:43797221 (GRCh38)
15:44089419 (GRCh37)
Canonical SPDI:: NC_000015.10:43797220:G:C
Gene:: SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43797221G>C, NC_000015.9:g.44089419G>C, NM_001258031.2:c.768C>G, NM_001258031.1:c.768C>G, NP_001244960.1:p.Asn256Lys

Select item 148800893512.

rs1488008935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43799227 (GRCh38)
15:44091425 (GRCh37)
Canonical SPDI:: NC_000015.10:43799226:C:T
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000015.10:g.43799227C>T, NC_000015.9:g.44091425C>T

Select item 148742189413.

rs1487421894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43800972 (GRCh38)
15:44093170 (GRCh37)
Canonical SPDI:: NC_000015.10:43800971:A:G
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43800972A>G, NC_000015.9:g.44093170A>G

Select item 148709968414.

rs1487099684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:43796162 (GRCh38)
15:44088360 (GRCh37)
Canonical SPDI:: NC_000015.10:43796161:T:G
Gene:: SERF2 (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43796162T>G, NC_000015.9:g.44088360T>G, NM_001258031.2:c.1133A>C, NM_001258031.1:c.1133A>C, NM_001258032.2:c.401A>C, NM_001258032.1:c.401A>C, NM_001033517.1:c.401A>C, NP_001244960.1:p.Glu378Ala, NP_001244961.1:p.Glu134Ala

Select item 148703265315.

rs1487032653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:43799225 (GRCh38)
15:44091423 (GRCh37)
Canonical SPDI:: NC_000015.10:43799224:T:G
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000015.10:g.43799225T>G, NC_000015.9:g.44091423T>G

Select item 148695302516.

rs1486953025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43800196 (GRCh38)
15:44092394 (GRCh37)
Canonical SPDI:: NC_000015.10:43800195:A:G
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43800196A>G, NC_000015.9:g.44092394A>G, NM_001258031.2:c.-210T>C, NM_001258032.2:c.-771T>C

Select item 148653932417.

rs1486539324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43797449 (GRCh38)
15:44089647 (GRCh37)
Canonical SPDI:: NC_000015.10:43797448:A:G
Gene:: SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.43797449A>G, NC_000015.9:g.44089647A>G

Select item 148606054318.

rs1486060543 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:43796733 (GRCh38)
15:44088932 (GRCh37)
Canonical SPDI:: NC_000015.10:43796733:G:GG
Gene:: SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43796734dup, NC_000015.9:g.44088932dup, NM_001258031.2:c.949dup, NM_001258031.1:c.949dup, NM_001258032.2:c.217dup, NM_001258032.1:c.217dup, NM_001033517.1:c.217dup, NP_001244960.1:p.Gln317fs, NP_001244961.1:p.Gln73fs

Select item 148585176219.

rs1485851762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43800436 (GRCh38)
15:44092634 (GRCh37)
Canonical SPDI:: NC_000015.10:43800435:C:T
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.43800436C>T, NC_000015.9:g.44092634C>T, NM_016400.3:c.-163C>T, NM_001199885.1:c.-163C>T

Select item 148561730620.

rs1485617306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43794459 (GRCh38)
15:44086657 (GRCh37)
Canonical SPDI:: NC_000015.10:43794458:C:T
Gene:: SERF2 (Varview), SERINC4 (Varview), MIR1282 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000015.10:g.43794459C>T, NC_000015.9:g.44086657C>T, NM_001018108.4:c.*686C>T, NM_001018108.3:c.*686C>T, NM_001199877.2:c.*686C>T, NM_001199877.1:c.*686C>T, NM_001199878.2:c.*686C>T, NM_001199878.1:c.*686C>T, NM_001258031.2:c.*541G>A, NM_001258031.1:c.*541G>A, NM_001258032.2:c.*541G>A, NM_001258032.1:c.*541G>A, NM_001199875.1:c.*487C>T, NM_001199876.1:c.*487C>T, NR_037672.1:n.830C>T

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