SNP Links for Gene (Select 201191) - SNP

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Select item 14915667781.

rs1491566778 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 17:50130669 (GRCh38)
17:48208034 (GRCh37)
Canonical SPDI:: NC_000017.11:50130669:A:AAA
Gene:: SAMD14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: AA=0.00003/3 (GnomAD)
HGVS:: NC_000017.11:g.50130670_50130671insAA, NC_000017.10:g.48208034_48208035insAA

Select item 14915203872.

rs1491520387 has merged into rs60162572 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGCGCGCGC>-,GC,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGC [Show Flanks]
Chromosome:: 17:50130698 (GRCh38)
17:48208062 (GRCh37)
Canonical SPDI:: NC_000017.11:50130696:CGCGCGCGCGCGC:C,NC_000017.11:50130696:CGCGCGCGCGCGC:CGC,NC_000017.11:50130696:CGCGCGCGCGCGC:CGCGC,NC_000017.11:50130696:CGCGCGCGCGCGC:CGCGCGC,NC_000017.11:50130696:CGCGCGCGCGCGC:CGCGCGCGC,NC_000017.11:50130696:CGCGCGCGCGCGC:CGCGCGCGCGC,NC_000017.11:50130696:CGCGCGCGCGCGC:CGCGCGCGCGCGCGC,NC_000017.11:50130696:CGCGCGCGCGCGC:CGCGCGCGCGCGCGCGC,NC_000017.11:50130696:CGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGC,NC_000017.11:50130696:CGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC,NC_000017.11:50130696:CGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGC
Gene:: SAMD14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGC=0./0 (ALFA)
HGVS:: NC_000017.11:g.50130698_50130709del, NC_000017.11:g.50130698GC[1], NC_000017.11:g.50130698GC[2], NC_000017.11:g.50130698GC[3], NC_000017.11:g.50130698GC[4], NC_000017.11:g.50130698GC[5], NC_000017.11:g.50130698GC[7], NC_000017.11:g.50130698GC[8], NC_000017.11:g.50130698GC[9], NC_000017.11:g.50130698GC[10], NC_000017.11:g.50130698GC[11], NC_000017.10:g.48208062_48208073del, NC_000017.10:g.48208062GC[1], NC_000017.10:g.48208062GC[2], NC_000017.10:g.48208062GC[3], NC_000017.10:g.48208062GC[4], NC_000017.10:g.48208062GC[5], NC_000017.10:g.48208062GC[7], NC_000017.10:g.48208062GC[8], NC_000017.10:g.48208062GC[9], NC_000017.10:g.48208062GC[10], NC_000017.10:g.48208062GC[11]

Select item 14915022803.

rs1491502280 has merged into rs67640238 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 17:50130682 (GRCh38)
17:48208046 (GRCh37)
Canonical SPDI:: NC_000017.11:50130668:CACACACACACACACACACACACACACAC:CACACACACACAC,NC_000017.11:50130668:CACACACACACACACACACACACACACAC:CACACACACACACAC,NC_000017.11:50130668:CACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000017.11:50130668:CACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000017.11:50130668:CACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000017.11:50130668:CACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000017.11:50130668:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000017.11:50130668:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000017.11:50130668:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000017.11:50130668:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000017.11:50130668:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000017.11:50130668:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000017.11:50130668:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: SAMD14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACAC=0./0 (ALFA)
CA=0.075/3 (GENOME_DK)
HGVS:: NC_000017.11:g.50130670AC[6], NC_000017.11:g.50130670AC[7], NC_000017.11:g.50130670AC[8], NC_000017.11:g.50130670AC[9], NC_000017.11:g.50130670AC[10], NC_000017.11:g.50130670AC[11], NC_000017.11:g.50130670AC[12], NC_000017.11:g.50130670AC[13], NC_000017.11:g.50130670AC[15], NC_000017.11:g.50130670AC[16], NC_000017.11:g.50130670AC[17], NC_000017.11:g.50130670AC[19], NC_000017.11:g.50130670AC[25], NC_000017.10:g.48208034AC[6], NC_000017.10:g.48208034AC[7], NC_000017.10:g.48208034AC[8], NC_000017.10:g.48208034AC[9], NC_000017.10:g.48208034AC[10], NC_000017.10:g.48208034AC[11], NC_000017.10:g.48208034AC[12], NC_000017.10:g.48208034AC[13], NC_000017.10:g.48208034AC[15], NC_000017.10:g.48208034AC[16], NC_000017.10:g.48208034AC[17], NC_000017.10:g.48208034AC[19], NC_000017.10:g.48208034AC[25]

Select item 14914301894.

rs1491430189 has merged into rs1491290485 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC [Show Flanks]
Chromosome:: 17:50128516 (GRCh38)
17:48205880 (GRCh37)
Canonical SPDI:: NC_000017.11:50128512:CCCCC:CCC,NC_000017.11:50128512:CCCCC:CCCCCCC
Gene:: SAMD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.00833/5 (NorthernSweden)
-=0.0149/250 (TOMMO)
-=0.03057/56 (Korea1K)
-=0.09938/383 (ALSPAC)
-=0.10761/399 (TWINSUK)
-=0.13738/688 (1000Genomes)
HGVS:: NC_000017.11:g.50128516_50128517del, NC_000017.11:g.50128516_50128517dup, NC_000017.10:g.48205880_48205881del, NC_000017.10:g.48205880_48205881dup

Select item 14912904855.

rs1491290485 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC [Show Flanks]
Chromosome:: 17:50128516 (GRCh38)
17:48205880 (GRCh37)
Canonical SPDI:: NC_000017.11:50128512:CCCCC:CCC,NC_000017.11:50128512:CCCCC:CCCCCCC
Gene:: SAMD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.00833/5 (NorthernSweden)
-=0.0149/250 (TOMMO)
-=0.03057/56 (Korea1K)
-=0.09938/383 (ALSPAC)
-=0.10761/399 (TWINSUK)
-=0.13738/688 (1000Genomes)
HGVS:: NC_000017.11:g.50128516_50128517del, NC_000017.11:g.50128516_50128517dup, NC_000017.10:g.48205880_48205881del, NC_000017.10:g.48205880_48205881dup

Select item 14912158236.

rs1491215823 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:50114056 (GRCh38)
17:48191420 (GRCh37)
Canonical SPDI:: NC_000017.11:50114055:AG:
Gene:: SAMD14 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000008/1 (ExAC)
HGVS:: NC_000017.11:g.50114056_50114057del, NC_000017.10:g.48191420_48191421del, NM_174920.4:c.1049_1050del, NM_174920.3:c.1049_1050del, XM_017024322.3:c.1214_1215del, XM_017024322.2:c.1214_1215del, XM_017024322.1:c.1214_1215del, NM_001257359.2:c.965_966del, NM_001257359.1:c.965_966del, NP_777580.1:p.Pro350fs, XP_016879811.1:p.Pro405fs, NP_001244288.1:p.Pro322fs

Select item 14911803467.

rs1491180346 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 17:50124762 (GRCh38)
17:48202127 (GRCh37)
Canonical SPDI:: NC_000017.11:50124762:G:GTG
Gene:: SAMD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
GT=0.000004/1 (TOPMED)
GT=0.000044/3 (GnomAD)
HGVS:: NC_000017.11:g.50124763_50124764insTG, NC_000017.10:g.48202127_48202128insTG

Select item 14911642418.

rs1491164241 has merged into rs868338823 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGCGCGC>-,GCGC,GCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGC [Show Flanks]
Chromosome:: 17:50124763 (GRCh38)
17:48202127 (GRCh37)
Canonical SPDI:: NC_000017.11:50124761:CGCGCGCGCGC:C,NC_000017.11:50124761:CGCGCGCGCGC:CGCGC,NC_000017.11:50124761:CGCGCGCGCGC:CGCGCGCGC,NC_000017.11:50124761:CGCGCGCGCGC:CGCGCGCGCGCGC,NC_000017.11:50124761:CGCGCGCGCGC:CGCGCGCGCGCGCGC,NC_000017.11:50124761:CGCGCGCGCGC:CGCGCGCGCGCGCGCGC,NC_000017.11:50124761:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGC,NC_000017.11:50124761:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC
Gene:: SAMD14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGC=0./0 (ALFA)
HGVS:: NC_000017.11:g.50124763_50124772del, NC_000017.11:g.50124763GC[2], NC_000017.11:g.50124763GC[4], NC_000017.11:g.50124763GC[6], NC_000017.11:g.50124763GC[7], NC_000017.11:g.50124763GC[8], NC_000017.11:g.50124763GC[9], NC_000017.11:g.50124763GC[10], NC_000017.10:g.48202127_48202136del, NC_000017.10:g.48202127GC[2], NC_000017.10:g.48202127GC[4], NC_000017.10:g.48202127GC[6], NC_000017.10:g.48202127GC[7], NC_000017.10:g.48202127GC[8], NC_000017.10:g.48202127GC[9], NC_000017.10:g.48202127GC[10]

Select item 14906196649.

rs1490619664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 17:50127864 (GRCh38)
17:48205228 (GRCh37)
Canonical SPDI:: NC_000017.11:50127863:T:A,NC_000017.11:50127863:T:C,NC_000017.11:50127863:T:G
Gene:: SAMD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50127864T>A, NC_000017.11:g.50127864T>C, NC_000017.11:g.50127864T>G, NC_000017.10:g.48205228T>A, NC_000017.10:g.48205228T>C, NC_000017.10:g.48205228T>G

Select item 149060399710.

rs1490603997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50130105 (GRCh38)
17:48207469 (GRCh37)
Canonical SPDI:: NC_000017.11:50130104:G:A
Gene:: SAMD14 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.50130105G>A, NC_000017.10:g.48207469G>A, NM_174920.4:c.-601C>T, NM_001257359.2:c.-601C>T

Select item 149054819511.

rs1490548195 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 17:50120089 (GRCh38)
17:48197453 (GRCh37)
Canonical SPDI:: NC_000017.11:50120088:A:
Gene:: SAMD14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000057/15 (TOPMED)
-=0.000064/9 (GnomAD)
HGVS:: NC_000017.11:g.50120089del, NC_000017.10:g.48197453del

Select item 149048428312.

rs1490484283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50128120 (GRCh38)
17:48205484 (GRCh37)
Canonical SPDI:: NC_000017.11:50128119:G:A
Gene:: SAMD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.00463/1 (Vietnamese)
HGVS:: NC_000017.11:g.50128120G>A, NC_000017.10:g.48205484G>A

Select item 149046661313.

rs1490466613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50112764 (GRCh38)
17:48190128 (GRCh37)
Canonical SPDI:: NC_000017.11:50112763:A:G
Gene:: SAMD14 (Varview)
Functional Consequence:: 3_prime_UTR_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_000017.11:g.50112764A>G, NC_000017.10:g.48190128A>G, NM_174920.4:c.*129T>C, NM_174920.3:c.*129T>C, XM_017024322.3:c.*129T>C, XM_017024322.2:c.*129T>C, XM_017024322.1:c.*129T>C, NM_001257359.2:c.*129T>C, NM_001257359.1:c.*129T>C

Select item 149045123214.

rs1490451232 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:50111733 (GRCh38)
17:48189097 (GRCh37)
Canonical SPDI:: NC_000017.11:50111728:CACACA:CACA
Gene:: PDK2 (Varview), SAMD14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50111729CA[2], NC_000017.10:g.48189093CA[2], NM_002611.5:c.*1632CA[2], NM_174920.4:c.*1159TG[2], NM_174920.3:c.*1159TG[2], XM_017024322.3:c.*1159TG[2], XM_017024322.2:c.*1159TG[2], XM_017024322.1:c.*1159TG[2], NM_001257359.2:c.*1159TG[2], NM_001257359.1:c.*1159TG[2], NM_001199898.2:c.*1632CA[2], NM_001199899.2:c.*1632CA[2]

Select item 149041859515.

rs1490418595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50112840 (GRCh38)
17:48190204 (GRCh37)
Canonical SPDI:: NC_000017.11:50112839:C:T
Gene:: SAMD14 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.50112840C>T, NC_000017.10:g.48190204C>T, NM_174920.4:c.*53G>A, NM_174920.3:c.*53G>A, XM_017024322.3:c.*53G>A, XM_017024322.2:c.*53G>A, XM_017024322.1:c.*53G>A, NM_001257359.2:c.*53G>A, NM_001257359.1:c.*53G>A

Select item 149013012116.

rs1490130121 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50128617 (GRCh38)
17:48205981 (GRCh37)
Canonical SPDI:: NC_000017.11:50128616:T:C
Gene:: SAMD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.50128617T>C, NC_000017.10:g.48205981T>C

Select item 149011270017.

rs1490112700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:50130893 (GRCh38)
17:48208257 (GRCh37)
Canonical SPDI:: NC_000017.11:50130892:C:A
Gene:: SAMD14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.50130893C>A, NC_000017.10:g.48208257C>A

Select item 149005691218.

rs1490056912 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50119572 (GRCh38)
17:48196936 (GRCh37)
Canonical SPDI:: NC_000017.11:50119571:A:G
Gene:: SAMD14 (Varview)
Functional Consequence:: 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_000017.11:g.50119572A>G, NC_000017.10:g.48196936A>G

Select item 149000138519.

rs1490001385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:50127629 (GRCh38)
17:48204993 (GRCh37)
Canonical SPDI:: NC_000017.11:50127628:C:G,NC_000017.11:50127628:C:T
Gene:: SAMD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.50127629C>G, NC_000017.11:g.50127629C>T, NC_000017.10:g.48204993C>G, NC_000017.10:g.48204993C>T

Select item 148999510320.

rs1489995103 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50124190 (GRCh38)
17:48201554 (GRCh37)
Canonical SPDI:: NC_000017.11:50124189:T:C
Gene:: SAMD14 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50124190T>C, NC_000017.10:g.48201554T>C, XM_017024322.3:c.186A>G, XM_017024322.2:c.186A>G, XM_017024322.1:c.186A>G

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