SNP Links for Gene (Select 55273) - SNP

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Links from Gene

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Select item 14909794941.

rs1490979494 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:55725055 (GRCh38)
17:53802416 (GRCh37)
Canonical SPDI:: NC_000017.11:55725054:T:C
Gene:: TMEM100 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.55725055T>C, NC_000017.10:g.53802416T>C, XM_047436343.1:c.-2176A>G

Select item 14907757952.

rs1490775795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:55721111 (GRCh38)
17:53798472 (GRCh37)
Canonical SPDI:: NC_000017.11:55721110:C:A
Gene:: TMEM100 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.55721111C>A, NC_000017.10:g.53798472C>A, NM_018286.3:c.-41G>T, NM_018286.2:c.-41G>T, NM_001099640.2:c.-41G>T, NM_001099640.1:c.-41G>T, XM_017024816.2:c.-41G>T, XM_017024816.1:c.-41G>T, XM_017024815.2:c.-41G>T, XM_017024815.1:c.-41G>T, XM_047436343.1:c.-41G>T, XM_047436341.1:c.-41G>T, XM_047436342.1:c.-41G>T

Select item 14906705953.

rs1490670595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:55721047 (GRCh38)
17:53798408 (GRCh37)
Canonical SPDI:: NC_000017.11:55721046:C:A
Gene:: TMEM100 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.55721047C>A, NC_000017.10:g.53798408C>A, NM_018286.3:c.24G>T, NM_018286.2:c.24G>T, NM_001099640.2:c.24G>T, NM_001099640.1:c.24G>T, XM_017024816.2:c.24G>T, XM_017024816.1:c.24G>T, XM_017024815.2:c.24G>T, XM_017024815.1:c.24G>T, XM_047436343.1:c.24G>T, XM_047436341.1:c.24G>T, XM_047436342.1:c.24G>T, NP_060756.2:p.Glu8Asp, NP_001093110.1:p.Glu8Asp, XP_016880305.1:p.Glu8Asp, XP_016880304.1:p.Glu8Asp, XP_047292299.1:p.Glu8Asp, XP_047292297.1:p.Glu8Asp, XP_047292298.1:p.Glu8Asp

Select item 14904884204.

rs1490488420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:55723873 (GRCh38)
17:53801234 (GRCh37)
Canonical SPDI:: NC_000017.11:55723872:C:T
Gene:: TMEM100 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_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.55723873C>T, NC_000017.10:g.53801234C>T, XM_047436343.1:c.-994G>A

Select item 14904224345.

rs1490422434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:55720633 (GRCh38)
17:53797994 (GRCh37)
Canonical SPDI:: NC_000017.11:55720632:C:T
Gene:: TMEM100 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000017.11:g.55720633C>T, NC_000017.10:g.53797994C>T, NM_018286.3:c.*33G>A, NM_018286.2:c.*33G>A, NM_001099640.2:c.*33G>A, NM_001099640.1:c.*33G>A, XM_017024816.2:c.*33G>A, XM_017024816.1:c.*33G>A, XM_017024815.2:c.*33G>A, XM_017024815.1:c.*33G>A, XM_047436343.1:c.*33G>A, XM_047436341.1:c.*33G>A, XM_047436342.1:c.*33G>A

Select item 14904191056.

rs1490419105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:55725963 (GRCh38)
17:53803324 (GRCh37)
Canonical SPDI:: NC_000017.11:55725962:G:A
Gene:: TMEM100 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.55725963G>A, NC_000017.10:g.53803324G>A, XM_047436341.1:c.-652C>T

Select item 14901500537.

rs1490150053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:55725938 (GRCh38)
17:53803299 (GRCh37)
Canonical SPDI:: NC_000017.11:55725937:C:A
Gene:: TMEM100 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.55725938C>A, NC_000017.10:g.53803299C>A, XM_047436341.1:c.-627G>T

Select item 14897996858.

rs1489799685 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:55719616 (GRCh38)
17:53796977 (GRCh37)
Canonical SPDI:: NC_000017.11:55719615:T:C
Gene:: TMEM100 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.55719616T>C, NC_000017.10:g.53796977T>C

Select item 14896530569.

rs1489653056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:55721614 (GRCh38)
17:53798975 (GRCh37)
Canonical SPDI:: NC_000017.11:55721613:T:C
Gene:: TMEM100 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.55721614T>C, NC_000017.10:g.53798975T>C

Select item 148933294310.

rs1489332943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:55723153 (GRCh38)
17:53800514 (GRCh37)
Canonical SPDI:: NC_000017.11:55723152:G:C
Gene:: TMEM100 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.55723153G>C, NC_000017.10:g.53800514G>C, XM_047436343.1:c.-274C>G

Select item 148922530111.

rs1489225301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:55721527 (GRCh38)
17:53798888 (GRCh37)
Canonical SPDI:: NC_000017.11:55721526:C:G,NC_000017.11:55721526:C:T
Gene:: TMEM100 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.55721527C>G, NC_000017.11:g.55721527C>T, NC_000017.10:g.53798888C>G, NC_000017.10:g.53798888C>T

Select item 148866860812.

rs1488668608 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:55724541 (GRCh38)
17:53801902 (GRCh37)
Canonical SPDI:: NC_000017.11:55724540:A:T
Gene:: TMEM100 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.55724541A>T, NC_000017.10:g.53801902A>T, XM_047436343.1:c.-1662T>A

Select item 148856283613.

rs1488562836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:55728344 (GRCh38)
17:53805705 (GRCh37)
Canonical SPDI:: NC_000017.11:55728343:T:C
Gene:: TMEM100 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.55728344T>C, NC_000017.10:g.53805705T>C

Select item 148853751614.

rs1488537516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:55727404 (GRCh38)
17:53804765 (GRCh37)
Canonical SPDI:: NC_000017.11:55727403:C:T
Gene:: TMEM100 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.55727404C>T, NC_000017.10:g.53804765C>T

Select item 148836555915.

rs1488365559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:55732648 (GRCh38)
17:53810009 (GRCh37)
Canonical SPDI:: NC_000017.11:55732647:C:T
Gene:: TMEM100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.55732648C>T, NC_000017.10:g.53810009C>T

Select item 148831253016.

rs1488312530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:55723734 (GRCh38)
17:53801095 (GRCh37)
Canonical SPDI:: NC_000017.11:55723733:C:T
Gene:: TMEM100 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.55723734C>T, NC_000017.10:g.53801095C>T, XM_047436343.1:c.-855G>A

Select item 148813494317.

rs1488134943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:55723528 (GRCh38)
17:53800889 (GRCh37)
Canonical SPDI:: NC_000017.11:55723527:G:A
Gene:: TMEM100 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,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)
HGVS:: NC_000017.11:g.55723528G>A, NC_000017.10:g.53800889G>A, XM_047436343.1:c.-649C>T

Select item 148793095418.

rs1487930954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:55730563 (GRCh38)
17:53807924 (GRCh37)
Canonical SPDI:: NC_000017.11:55730562:T:C
Gene:: TMEM100 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.55730563T>C, NC_000017.10:g.53807924T>C

Select item 148769168819.

rs1487691688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:55722766 (GRCh38)
17:53800127 (GRCh37)
Canonical SPDI:: NC_000017.11:55722765:G:A
Gene:: TMEM100 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.55722766G>A, NC_000017.10:g.53800127G>A, NM_018286.3:c.-213C>T, NM_018286.2:c.-213C>T, XM_017024816.2:c.-219C>T, XM_017024816.1:c.-219C>T