SNP Links for Gene (Select 147007) - SNP

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Select item 14906940461.

rs1490694046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:28363645 (GRCh38)
17:26690667 (GRCh37)
Canonical SPDI:: NC_000017.11:28363644:A:G,NC_000017.11:28363644:A:T
Gene:: TMEM199 (Varview), SEBOX (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.28363645A>G, NC_000017.11:g.28363645A>T, NC_000017.10:g.26690667A>G, NC_000017.10:g.26690667A>T, NG_046803.1:g.11065A>G, NG_046803.1:g.11065A>T, NM_152464.3:c.*2393A>G, NM_152464.3:c.*2393A>T, NM_152464.2:c.*2393A>G, NM_152464.2:c.*2393A>T, NW_003871090.1:g.45509A>G, NW_003871090.1:g.45509A>T, NM_001080837.4:c.*623T>C, NM_001080837.4:c.*623T>A

Select item 14904691602.

rs1490469160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:28357679 (GRCh38)
17:26684702 (GRCh37)
Canonical SPDI:: NC_000017.11:28357678:C:G,NC_000017.11:28357678:C:T
Gene:: POLDIP2 (Varview), TMEM199 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28357679C>G, NC_000017.11:g.28357679C>T, NC_000017.10:g.26684702C>G, NC_000017.10:g.26684702C>T, NG_046803.1:g.5099C>G, NG_046803.1:g.5099C>T, NM_152464.3:c.9C>G, NM_152464.3:c.9C>T, NM_152464.2:c.9C>G, NM_152464.2:c.9C>T, NM_152464.1:c.9C>G, NM_152464.1:c.9C>T, NW_003871090.1:g.39544C>G, NW_003871090.1:g.39544C>T

Select item 14903060603.

rs1490306060 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:28358056 (GRCh38)
17:26685079 (GRCh37)
Canonical SPDI:: NC_000017.11:28358055:A:C
Gene:: POLDIP2 (Varview), TMEM199 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.28358056A>C, NC_000017.10:g.26685079A>C, NG_046803.1:g.5476A>C, NW_003871090.1:g.39921A>C

Select item 14890104614.

rs1489010461 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28362261 (GRCh38)
17:26689283 (GRCh37)
Canonical SPDI:: NC_000017.11:28362260:T:C
Gene:: TMEM199 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.28362261T>C, NC_000017.10:g.26689283T>C, NG_046803.1:g.9681T>C, NM_152464.3:c.*1009T>C, NM_152464.2:c.*1009T>C, NW_003871090.1:g.44125T>C

Select item 14887377745.

rs1488737774 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:28356053 (GRCh38)
17:26683079 (GRCh37)
Canonical SPDI:: NC_000017.11:28356050:CACA:CA
Gene:: POLDIP2 (Varview), TMEM199 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.28356051CA[1], NC_000017.10:g.26683077CA[1], NG_046803.1:g.3471CA[1], NW_003871090.1:g.37919CA[1]

Select item 14886016756.

rs1488601675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28361933 (GRCh38)
17:26688955 (GRCh37)
Canonical SPDI:: NC_000017.11:28361932:T:C
Gene:: TMEM199 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28361933T>C, NC_000017.10:g.26688955T>C, NG_046803.1:g.9353T>C, NM_152464.3:c.*681T>C, NM_152464.2:c.*681T>C, NM_152464.1:c.*681T>C, NW_003871090.1:g.43797T>C

Select item 14885603567.

rs1488560356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:28359335 (GRCh38)
17:26686358 (GRCh37)
Canonical SPDI:: NC_000017.11:28359334:G:T
Gene:: POLDIP2 (Varview), TMEM199 (Varview), MIR4723 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,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.28359335G>T, NC_000017.10:g.26686358G>T, NG_046803.1:g.6755G>T, NM_152464.3:c.306G>T, NM_152464.2:c.306G>T, NM_152464.1:c.306G>T, NW_003871090.1:g.41200G>T

Select item 14883461188.

rs1488346118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28362833 (GRCh38)
17:26689855 (GRCh37)
Canonical SPDI:: NC_000017.11:28362832:G:A
Gene:: TMEM199 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28362833G>A, NC_000017.10:g.26689855G>A, NG_046803.1:g.10253G>A, NM_152464.3:c.*1581G>A, NM_152464.2:c.*1581G>A, NW_003871090.1:g.44697G>A

Select item 14880290129.

rs1488029012 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTCTCATCTCCCCAGGGTCTTGTCAGTCAGAG>- [Show Flanks]
Chromosome:: 17:28363300 (GRCh38)
17:26690322 (GRCh37)
Canonical SPDI:: NC_000017.11:28363294:CAGAGGCTCTCATCTCCCCAGGGTCTTGTCAGTCAGAG:CAGAG
Gene:: TMEM199 (Varview), SEBOX (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAGAG=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.28363300_28363332del, NC_000017.10:g.26690322_26690354del, NG_046803.1:g.10720_10752del, NM_152464.3:c.*2048_*2080del, NM_152464.2:c.*2048_*2080del, NW_003871090.1:g.45164_45196del

Select item 148763904010.

rs1487639040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:28357001 (GRCh38)
17:26684027 (GRCh37)
Canonical SPDI:: NC_000017.11:28357000:G:A,NC_000017.11:28357000:G:C
Gene:: POLDIP2 (Varview), TMEM199 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.28357001G>A, NC_000017.11:g.28357001G>C, NC_000017.10:g.26684027G>A, NC_000017.10:g.26684027G>C, NG_046803.1:g.4421G>A, NG_046803.1:g.4421G>C, NW_003871090.1:g.38869G>A, NW_003871090.1:g.38869G>C

Select item 148715670711.

rs1487156707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28357527 (GRCh38)
17:26684550 (GRCh37)
Canonical SPDI:: NC_000017.11:28357526:T:C
Gene:: POLDIP2 (Varview), TMEM199 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_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_000017.11:g.28357527T>C, NC_000017.10:g.26684550T>C, NG_046803.1:g.4947T>C, NW_003871090.1:g.39392T>C, NM_015584.5:c.-79A>G, NM_015584.4:c.-79A>G, NM_015584.3:c.-79A>G, NM_001290145.2:c.-79A>G, NM_001290145.1:c.-79A>G

Select item 148710085712.

rs1487100857 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28356605 (GRCh38)
17:26683631 (GRCh37)
Canonical SPDI:: NC_000017.11:28356604:C:T
Gene:: POLDIP2 (Varview), TMEM199 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000057/8 (GnomAD)
HGVS:: NC_000017.11:g.28356605C>T, NC_000017.10:g.26683631C>T, NG_046803.1:g.4025C>T, NW_003871090.1:g.38473C>T

Select item 148694404213.

rs1486944042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28359941 (GRCh38)
17:26686964 (GRCh37)
Canonical SPDI:: NC_000017.11:28359940:G:A
Gene:: TMEM199 (Varview), MIR4723 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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.28359941G>A, NC_000017.10:g.26686964G>A, NG_046803.1:g.7361G>A, NW_003871090.1:g.41806G>A

Select item 148691939514.

rs1486919395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:28360460 (GRCh38)
17:26687483 (GRCh37)
Canonical SPDI:: NC_000017.11:28360459:A:T
Gene:: TMEM199 (Varview), MIR4723 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000057/15 (TOPMED)
T=0.028986/4 (GnomAD)
HGVS:: NC_000017.11:g.28360460A>T, NC_000017.10:g.26687483A>T, NG_046803.1:g.7880A>T, NW_003871090.1:g.42325A>T

Select item 148689763115.

rs1486897631 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:28359614 (GRCh38)
17:26686637 (GRCh37)
Canonical SPDI:: NC_000017.11:28359613:A:C
Gene:: TMEM199 (Varview), MIR4723 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.28359614A>C, NC_000017.10:g.26686637A>C, NG_046803.1:g.7034A>C, NW_003871090.1:g.41479A>C

Select item 148670285716.

rs1486702857 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28361585 (GRCh38)
17:26688607 (GRCh37)
Canonical SPDI:: NC_000017.11:28361584:C:T
Gene:: TMEM199 (Varview)
Functional Consequence:: 3_prime_UTR_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.28361585C>T, NC_000017.10:g.26688607C>T, NG_046803.1:g.9005C>T, NM_152464.3:c.*333C>T, NM_152464.2:c.*333C>T, NM_152464.1:c.*333C>T, NW_003871090.1:g.43449C>T

Select item 148574172117.

rs1485741721 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 17:28361340 (GRCh38)
17:26688362 (GRCh37)
Canonical SPDI:: NC_000017.11:28361339:T:A,NC_000017.11:28361339:T:G
Gene:: TMEM199 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28361340T>A, NC_000017.11:g.28361340T>G, NC_000017.10:g.26688362T>A, NC_000017.10:g.26688362T>G, NG_046803.1:g.8760T>A, NG_046803.1:g.8760T>G, NM_152464.3:c.*88T>A, NM_152464.3:c.*88T>G, NM_152464.2:c.*88T>A, NM_152464.2:c.*88T>G, NM_152464.1:c.*88T>A, NM_152464.1:c.*88T>G, NW_003871090.1:g.43204T>A, NW_003871090.1:g.43204T>G

Select item 148532592118.

rs1485325921 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28360947 (GRCh38)
17:26687969 (GRCh37)
Canonical SPDI:: NC_000017.11:28360946:A:G
Gene:: TMEM199 (Varview), MIR4723 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28360947A>G, NC_000017.10:g.26687969A>G, NG_046803.1:g.8367A>G, NW_003871090.1:g.42811A>G

Select item 148519468219.

rs1485194682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28358122 (GRCh38)
17:26685145 (GRCh37)
Canonical SPDI:: NC_000017.11:28358121:G:A
Gene:: POLDIP2 (Varview), TMEM199 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28358122G>A, NC_000017.10:g.26685145G>A, NG_046803.1:g.5542G>A, NW_003871090.1:g.39987G>A

Select item 148507020820.

rs1485070208 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:28362009 (GRCh38)
17:26689031 (GRCh37)
Canonical SPDI:: NC_000017.11:28362008:A:G,NC_000017.11:28362008:A:T
Gene:: TMEM199 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.28362009A>G, NC_000017.11:g.28362009A>T, NC_000017.10:g.26689031A>G, NC_000017.10:g.26689031A>T, NG_046803.1:g.9429A>G, NG_046803.1:g.9429A>T, NM_152464.3:c.*757A>G, NM_152464.3:c.*757A>T, NM_152464.2:c.*757A>G, NM_152464.2:c.*757A>T, NM_152464.1:c.*757A>G, NM_152464.1:c.*757A>T, NW_003871090.1:g.43873A>G, NW_003871090.1:g.43873A>T

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