SNP Links for Gene (Select 284123) - SNP

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Select item 14915269911.

rs1491526991 has merged into rs1555532949 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG,TGTGTGTG [Show Flanks]
Chromosome:: 17:22299247 (GRCh38)
17:21825853 (GRCh37)
Canonical SPDI:: NC_000017.11:22299234:TGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000017.11:22299234:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000017.11:22299234:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000017.11:22299234:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG
Gene:: FAM27E5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
TG=0.004034/68 (TOMMO)
-=0.005/3 (NorthernSweden)
-=0.067462/260 (ALSPAC)
-=0.06931/257 (TWINSUK)
HGVS:: NC_000017.11:g.22299235TG[6], NC_000017.11:g.22299235TG[7], NC_000017.11:g.22299235TG[9], NC_000017.11:g.22299235TG[10], NC_000017.10:g.21825841TG[6], NC_000017.10:g.21825841TG[7], NC_000017.10:g.21825841TG[9], NC_000017.10:g.21825841TG[10]

Select item 14905390252.

rs1490539025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:22298534 (GRCh38)
17:21825140 (GRCh37)
Canonical SPDI:: NC_000017.11:22298533:G:A,NC_000017.11:22298533:G:T
Gene:: FAM27E5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.22298534G>A, NC_000017.11:g.22298534G>T, NC_000017.10:g.21825140G>A, NC_000017.10:g.21825140G>T

Select item 14900591173.

rs1490059117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:22299725 (GRCh38)
17:21826331 (GRCh37)
Canonical SPDI:: NC_000017.11:22299724:A:G
Gene:: FAM27E5 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000017.11:g.22299725A>G, NC_000017.10:g.21826331A>G, NR_028336.1:n.441A>G, NM_203392.1:c.*31A>G

Select item 14900074964.

rs1490007496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:22299320 (GRCh38)
17:21825926 (GRCh37)
Canonical SPDI:: NC_000017.11:22299319:G:A,NC_000017.11:22299319:G:C
Gene:: FAM27E5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.22299320G>A, NC_000017.11:g.22299320G>C, NC_000017.10:g.21825926G>A, NC_000017.10:g.21825926G>C

Select item 14895208305.

rs1489520830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:22299712 (GRCh38)
17:21826318 (GRCh37)
Canonical SPDI:: NC_000017.11:22299711:C:T
Gene:: FAM27E5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.22299712C>T, NC_000017.10:g.21826318C>T, NR_028336.1:n.428C>T, NM_203392.1:c.*18C>T

Select item 14882555076.

rs1488255507 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:22300183 (GRCh38)
17:21826789 (GRCh37)
Canonical SPDI:: NC_000017.11:22300182:CCCCC:CCCC
Gene:: FAM27E5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.22300187del, NC_000017.10:g.21826793del

Select item 14881440057.

rs1488144005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:22299012 (GRCh38)
17:21825618 (GRCh37)
Canonical SPDI:: NC_000017.11:22299011:G:A,NC_000017.11:22299011:G:T
Gene:: FAM27E5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.22299012G>A, NC_000017.11:g.22299012G>T, NC_000017.10:g.21825618G>A, NC_000017.10:g.21825618G>T

Select item 14873835378.

rs1487383537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:22297200 (GRCh38)
17:21823806 (GRCh37)
Canonical SPDI:: NC_000017.11:22297199:A:G
Gene:: FAM27E5 (Varview), LOC105371597 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.22297200A>G, NC_000017.10:g.21823806A>G, XR_942180.2:n.364A>G, XR_942180.1:n.368A>G

Select item 14861248569.

rs1486124856 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:22297292 (GRCh38)
17:21823898 (GRCh37)
Canonical SPDI:: NC_000017.11:22297291:A:T
Gene:: FAM27E5 (Varview), LOC105371597 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00005/7 (GnomAD)
T=0.000057/15 (TOPMED)
HGVS:: NC_000017.11:g.22297292A>T, NC_000017.10:g.21823898A>T, XR_942180.2:n.456A>T, XR_942180.1:n.460A>T

Select item 148549362810.

rs1485493628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:22300235 (GRCh38)
17:21826841 (GRCh37)
Canonical SPDI:: NC_000017.11:22300234:G:C
Gene:: FAM27E5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.22300235G>C, NC_000017.10:g.21826841G>C

Select item 148544374511.

rs1485443745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:22298463 (GRCh38)
17:21825069 (GRCh37)
Canonical SPDI:: NC_000017.11:22298462:T:A
Gene:: FAM27E5 (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=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.22298463T>A, NC_000017.10:g.21825069T>A

Select item 148495764112.

rs1484957641 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:22299674 (GRCh38)
17:21826280 (GRCh37)
Canonical SPDI:: NC_000017.11:22299673:CT:
Gene:: FAM27E5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.22299674_22299675del, NC_000017.10:g.21826280_21826281del, NR_028336.1:n.390_391del, NM_203392.1:c.196_197del

Select item 148320122313.

rs1483201223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:22297452 (GRCh38)
17:21824058 (GRCh37)
Canonical SPDI:: NC_000017.11:22297451:G:A
Gene:: FAM27E5 (Varview), LOC105371597 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.22297452G>A, NC_000017.10:g.21824058G>A

Select item 148305753714.

rs1483057537 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:22299563 (GRCh38)
17:21826169 (GRCh37)
Canonical SPDI:: NC_000017.11:22299562:CCC:CC
Gene:: FAM27E5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000017.11:g.22299565del, NC_000017.10:g.21826171del, NR_028336.1:n.281del, NM_203392.1:c.87del

Select item 148218041615.

rs1482180416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:22300033 (GRCh38)
17:21826639 (GRCh37)
Canonical SPDI:: NC_000017.11:22300032:T:A
Gene:: FAM27E5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000017.11:g.22300033T>A, NC_000017.10:g.21826639T>A

Select item 148150503016.

rs1481505030 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:22298596 (GRCh38)
17:21825202 (GRCh37)
Canonical SPDI:: NC_000017.11:22298595:T:C
Gene:: FAM27E5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.22298596T>C, NC_000017.10:g.21825202T>C

Select item 148110969117.

rs1481109691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:22298224 (GRCh38)
17:21824830 (GRCh37)
Canonical SPDI:: NC_000017.11:22298223:C:T
Gene:: FAM27E5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.22298224C>T, NC_000017.10:g.21824830C>T

Select item 148105830118.

rs1481058301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:22298960 (GRCh38)
17:21825566 (GRCh37)
Canonical SPDI:: NC_000017.11:22298959:G:A
Gene:: FAM27E5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.22298960G>A, NC_000017.10:g.21825566G>A, NR_028336.1:n.197G>A, NM_203392.1:c.3G>A

Select item 148090788219.

rs1480907882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:22298575 (GRCh38)
17:21825181 (GRCh37)
Canonical SPDI:: NC_000017.11:22298574:G:A
Gene:: FAM27E5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.22298575G>A, NC_000017.10:g.21825181G>A

Select item 147930235420.

rs1479302354 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:22299456 (GRCh38)
17:21826062 (GRCh37)
Canonical SPDI:: NC_000017.11:22299455:A:G
Gene:: FAM27E5 (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.22299456A>G, NC_000017.10:g.21826062A>G

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