SNP Links for Gene (Select 195814) - SNP

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Select item 14910816831.

rs1491081683 has merged into rs34303036 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 8:56314215 (GRCh38)
8:57226774 (GRCh37)
Canonical SPDI:: NC_000008.11:56314205:AAAAAAAAAAA:AAAAAAAAA,NC_000008.11:56314205:AAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:56314205:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:56314205:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:56314205:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: SDR16C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.1931/431 (1000Genomes)
HGVS:: NC_000008.11:g.56314215_56314216del, NC_000008.11:g.56314216del, NC_000008.11:g.56314216dup, NC_000008.11:g.56314215_56314216dup, NC_000008.11:g.56314214_56314216dup, NC_000008.10:g.57226774_57226775del, NC_000008.10:g.57226775del, NC_000008.10:g.57226775dup, NC_000008.10:g.57226774_57226775dup, NC_000008.10:g.57226773_57226775dup

Select item 14910162852.

rs1491016285 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 8:56299295 (GRCh38)
8:57211855 (GRCh37)
Canonical SPDI:: NC_000008.11:56299295:C:CCC
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
CC=0.000015/2 (GnomAD)
HGVS:: NC_000008.11:g.56299296_56299297insCC, NC_000008.10:g.57211855_57211856insCC

Select item 14906859183.

rs1490685918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:56320847 (GRCh38)
8:57233406 (GRCh37)
Canonical SPDI:: NC_000008.11:56320846:C:A
Gene:: SDR16C5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.56320847C>A, NC_000008.10:g.57233406C>A

Select item 14905621644.

rs1490562164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:56301618 (GRCh38)
8:57214177 (GRCh37)
Canonical SPDI:: NC_000008.11:56301617:A:G
Gene:: SDR16C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.56301618A>G, NC_000008.10:g.57214177A>G

Select item 14904524935.

rs1490452493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:56321502 (GRCh38)
8:57234061 (GRCh37)
Canonical SPDI:: NC_000008.11:56321501:C:A
Gene:: SDR16C5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000008.11:g.56321502C>A, NC_000008.10:g.57234061C>A

Select item 14902834206.

rs1490283420 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAC>- [Show Flanks]
Chromosome:: 8:56306597 (GRCh38)
8:57219156 (GRCh37)
Canonical SPDI:: NC_000008.11:56306593:AACAAC:AAC
Gene:: SDR16C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACAAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.56306594AAC[1], NC_000008.10:g.57219153AAC[1]

Select item 14902163107.

rs1490216310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:56311794 (GRCh38)
8:57224353 (GRCh37)
Canonical SPDI:: NC_000008.11:56311793:G:C
Gene:: SDR16C5 (Varview)
Functional Consequence:: intron_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_000008.11:g.56311794G>C, NC_000008.10:g.57224353G>C

Select item 14898643408.

rs1489864340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:56302596 (GRCh38)
8:57215155 (GRCh37)
Canonical SPDI:: NC_000008.11:56302595:C:T
Gene:: SDR16C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.56302596C>T, NC_000008.10:g.57215155C>T

Select item 14894211779.

rs1489421177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:56318932 (GRCh38)
8:57231491 (GRCh37)
Canonical SPDI:: NC_000008.11:56318931:C:T
Gene:: SDR16C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.56318932C>T, NC_000008.10:g.57231491C>T

Select item 148922680410.

rs1489226804 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:56317795 (GRCh38)
8:57230354 (GRCh37)
Canonical SPDI:: NC_000008.11:56317794:T:C
Gene:: SDR16C5 (Varview)
Functional Consequence:: intron_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_000008.11:g.56317795T>C, NC_000008.10:g.57230354T>C

Select item 148901632511.

rs1489016325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:56310325 (GRCh38)
8:57222884 (GRCh37)
Canonical SPDI:: NC_000008.11:56310324:G:A,NC_000008.11:56310324:G:C
Gene:: SDR16C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00042/5 (ALFA)
A=0.00485/14 (KOREAN)
C=0.25/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.56310325G>A, NC_000008.11:g.56310325G>C, NC_000008.10:g.57222884G>A, NC_000008.10:g.57222884G>C

Select item 148894599612.

rs1488945996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:56302214 (GRCh38)
8:57214773 (GRCh37)
Canonical SPDI:: NC_000008.11:56302213:G:A
Gene:: SDR16C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.56302214G>A, NC_000008.10:g.57214773G>A

Select item 148893665513.

rs1488936655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:56306368 (GRCh38)
8:57218927 (GRCh37)
Canonical SPDI:: NC_000008.11:56306367:C:T
Gene:: SDR16C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.56306368C>T, NC_000008.10:g.57218927C>T

Select item 148890666014.

rs1488906660 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:56307500 (GRCh38)
8:57220059 (GRCh37)
Canonical SPDI:: NC_000008.11:56307499:A:G
Gene:: SDR16C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.56307500A>G, NC_000008.10:g.57220059A>G

Select item 148886957015.

rs1488869570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:56308976 (GRCh38)
8:57221535 (GRCh37)
Canonical SPDI:: NC_000008.11:56308975:C:G,NC_000008.11:56308975:C:T
Gene:: SDR16C5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.56308976C>G, NC_000008.11:g.56308976C>T, NC_000008.10:g.57221535C>G, NC_000008.10:g.57221535C>T, NM_138969.4:c.517G>C, NM_138969.4:c.517G>A, NM_138969.3:c.517G>C, NM_138969.3:c.517G>A, NM_138969.2:c.517G>C, NM_138969.2:c.517G>A, NM_001318049.2:c.517G>C, NM_001318049.2:c.517G>A, NM_001318049.1:c.517G>C, NM_001318049.1:c.517G>A, NM_001318050.2:c.385G>C, NM_001318050.2:c.385G>A, NM_001318050.1:c.385G>C, NM_001318050.1:c.385G>A, NP_620419.2:p.Val173Leu, NP_620419.2:p.Val173Ile, NP_001304978.1:p.Val173Leu, NP_001304978.1:p.Val173Ile, NP_001304979.1:p.Val129Leu, NP_001304979.1:p.Val129Ile

Select item 148876304816.

rs1488763048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:56300762 (GRCh38)
8:57213321 (GRCh37)
Canonical SPDI:: NC_000008.11:56300761:C:A,NC_000008.11:56300761:C:G,NC_000008.11:56300761:C:T
Gene:: SDR16C5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.56300762C>A, NC_000008.11:g.56300762C>G, NC_000008.11:g.56300762C>T, NC_000008.10:g.57213321C>A, NC_000008.10:g.57213321C>G, NC_000008.10:g.57213321C>T, NM_138969.4:c.*718G>T, NM_138969.4:c.*718G>C, NM_138969.4:c.*718G>A, NM_138969.3:c.*718G>T, NM_138969.3:c.*718G>C, NM_138969.3:c.*718G>A, NM_138969.2:c.*718G>T, NM_138969.2:c.*718G>C, NM_138969.2:c.*718G>A, NM_001318049.2:c.*838G>T, NM_001318049.2:c.*838G>C, NM_001318049.2:c.*838G>A, NM_001318049.1:c.*838G>T, NM_001318049.1:c.*838G>C, NM_001318049.1:c.*838G>A, NM_001318050.2:c.*718G>T, NM_001318050.2:c.*718G>C, NM_001318050.2:c.*718G>A, NM_001318050.1:c.*718G>T, NM_001318050.1:c.*718G>C, NM_001318050.1:c.*718G>A

Select item 148849434217.

rs1488494342 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGAAG>- [Show Flanks]
Chromosome:: 8:56310181 (GRCh38)
8:57222740 (GRCh37)
Canonical SPDI:: NC_000008.11:56310179:GAGGAAG:G
Gene:: SDR16C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00169/20 (ALFA)
-=0.00182/3 (Korea1K)
-=0.00309/29 (TOMMO)
HGVS:: NC_000008.11:g.56310181_56310186del, NC_000008.10:g.57222740_57222745del

Select item 148848660618.

rs1488486606 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,T [Show Flanks]
Chromosome:: 8:56303015 (GRCh38)
8:57215575 (GRCh37)
Canonical SPDI:: NC_000008.11:56303015::G,NC_000008.11:56303015::T
Gene:: SDR16C5 (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)
G=0.00006/1 (TOMMO)
HGVS:: NC_000008.11:g.56303015_56303016insG, NC_000008.11:g.56303015_56303016insT, NC_000008.10:g.57215574_57215575insG, NC_000008.10:g.57215574_57215575insT

Select item 148845611419.

rs1488456114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:56311456 (GRCh38)
8:57224015 (GRCh37)
Canonical SPDI:: NC_000008.11:56311455:A:G
Gene:: SDR16C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.56311456A>G, NC_000008.10:g.57224015A>G

Select item 148839452720.

rs1488394527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:56321331 (GRCh38)
8:57233890 (GRCh37)
Canonical SPDI:: NC_000008.11:56321330:G:A
Gene:: SDR16C5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000008.11:g.56321331G>A, NC_000008.10:g.57233890G>A

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