SNP Links for Gene (Select 338773) - SNP

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Select item 14910342441.

rs1491034244 has merged into rs141084096 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA [Show Flanks]
Chromosome:: 12:108595364 (GRCh38)
12:108989140 (GRCh37)
Canonical SPDI:: NC_000012.12:108595360:ACACACA:ACA,NC_000012.12:108595360:ACACACA:ACACA,NC_000012.12:108595360:ACACACA:ACACACACA
Gene:: TMEM119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
-=0.17795/326 (Korea1K)
-=0.19938/3338 (TOMMO)
-=0.34775/1742 (1000Genomes)
AC=0.42184/421 (GoNL)
AC=0.42308/253 (NorthernSweden)
AC=0.44714/1658 (TWINSUK)
AC=0.45952/1771 (ALSPAC)
HGVS:: NC_000012.12:g.108595362CA[1], NC_000012.12:g.108595362CA[2], NC_000012.12:g.108595362CA[4], NC_000012.11:g.108989138CA[1], NC_000012.11:g.108989138CA[2], NC_000012.11:g.108989138CA[4]

Select item 14909875462.

rs1490987546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:108595366 (GRCh38)
12:108989142 (GRCh37)
Canonical SPDI:: NC_000012.12:108595365:C:T
Gene:: TMEM119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000058/8 (GnomAD)
HGVS:: NC_000012.12:g.108595366C>T, NC_000012.11:g.108989142C>T

Select item 14903188543.

rs1490318854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:108595937 (GRCh38)
12:108989713 (GRCh37)
Canonical SPDI:: NC_000012.12:108595936:G:A
Gene:: TMEM119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.108595937G>A, NC_000012.11:g.108989713G>A

Select item 14897802524.

rs1489780252 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:108593045 (GRCh38)
12:108986822 (GRCh37)
Canonical SPDI:: NC_000012.12:108593045:CCCCC:CCCCCC
Gene:: TMEM119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCCCCC=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.108593050dup, NC_000012.11:g.108986826dup

Select item 14896842285.

rs1489684228 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:108593818 (GRCh38)
12:108987594 (GRCh37)
Canonical SPDI:: NC_000012.12:108593817:A:G
Gene:: TMEM119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.108593818A>G, NC_000012.11:g.108987594A>G

Select item 14891823686.

rs1489182368 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:108599701 (GRCh38)
12:108993477 (GRCh37)
Canonical SPDI:: NC_000012.12:108599700:A:
Gene:: TMEM119 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.108599701del, NC_000012.11:g.108993477del

Select item 14879255687.

rs1487925568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:108594480 (GRCh38)
12:108988256 (GRCh37)
Canonical SPDI:: NC_000012.12:108594479:C:T
Gene:: TMEM119 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000012.12:g.108594480C>T, NC_000012.11:g.108988256C>T, XM_011538271.3:c.-158G>A, XM_011538271.2:c.-158G>A, XM_011538271.1:c.-158G>A

Select item 14875942378.

rs1487594237 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:108593464 (GRCh38)
12:108987241 (GRCh37)
Canonical SPDI:: NC_000012.12:108593464::T
Gene:: TMEM119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.108593464_108593465insT, NC_000012.11:g.108987240_108987241insT

Select item 14875354369.

rs1487535436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:108594463 (GRCh38)
12:108988239 (GRCh37)
Canonical SPDI:: NC_000012.12:108594462:G:A,NC_000012.12:108594462:G:C
Gene:: TMEM119 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.108594463G>A, NC_000012.12:g.108594463G>C, NC_000012.11:g.108988239G>A, NC_000012.11:g.108988239G>C, XM_011538271.3:c.-141C>T, XM_011538271.3:c.-141C>G, XM_011538271.2:c.-141C>T, XM_011538271.2:c.-141C>G, XM_011538271.1:c.-141C>T, XM_011538271.1:c.-141C>G

Select item 148720606010.

rs1487206060 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:108595544 (GRCh38)
12:108989321 (GRCh37)
Canonical SPDI:: NC_000012.12:108595544:A:AA
Gene:: TMEM119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.108595545dup, NC_000012.11:g.108989321dup

Select item 148618153311.

rs1486181533 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 12:108590553 (GRCh38)
12:108984329 (GRCh37)
Canonical SPDI:: NC_000012.12:108590552:T:
Gene:: TMEM119 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.108590553del, NC_000012.11:g.108984329del, XM_011538271.3:c.*979del, XM_011538271.2:c.*979del, XM_011538271.1:c.*979del, NM_181724.3:c.*979del, NM_181724.2:c.*979del

Select item 148609335812.

rs1486093358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:108596685 (GRCh38)
12:108990461 (GRCh37)
Canonical SPDI:: NC_000012.12:108596684:G:A
Gene:: TMEM119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.108596685G>A, NC_000012.11:g.108990461G>A

Select item 148604281213.

rs1486042812 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:108594588 (GRCh38)
12:108988364 (GRCh37)
Canonical SPDI:: NC_000012.12:108594587:T:A
Gene:: TMEM119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00068/11 (TOMMO)
HGVS:: NC_000012.12:g.108594588T>A, NC_000012.11:g.108988364T>A

Select item 148567705414.

rs1485677054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:108590497 (GRCh38)
12:108984273 (GRCh37)
Canonical SPDI:: NC_000012.12:108590496:G:A
Gene:: TMEM119 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.108590497G>A, NC_000012.11:g.108984273G>A, XM_011538271.3:c.*1035C>T, XM_011538271.2:c.*1035C>T, XM_011538271.1:c.*1035C>T, NM_181724.3:c.*1035C>T, NM_181724.2:c.*1035C>T

Select item 148539412015.

rs1485394120 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 12:108596447 (GRCh38)
12:108990224 (GRCh37)
Canonical SPDI:: NC_000012.12:108596447:A:AAA
Gene:: TMEM119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
AA=0.000043/6 (GnomAD)
AA=0.000312/2 (1000Genomes)
AA=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.108596448_108596449insAA, NC_000012.11:g.108990224_108990225insAA

Select item 148532906616.

rs1485329066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:108598980 (GRCh38)
12:108992756 (GRCh37)
Canonical SPDI:: NC_000012.12:108598979:G:A
Gene:: TMEM119 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.108598980G>A, NC_000012.11:g.108992756G>A

Select item 148498698217.

rs1484986982 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:108595116 (GRCh38)
12:108988892 (GRCh37)
Canonical SPDI:: NC_000012.12:108595115:T:A
Gene:: TMEM119 (Varview)
Functional Consequence:: 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_000012.12:g.108595116T>A, NC_000012.11:g.108988892T>A

Select item 148471050018.

rs1484710500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:108591580 (GRCh38)
12:108985356 (GRCh37)
Canonical SPDI:: NC_000012.12:108591579:A:C,NC_000012.12:108591579:A:G,NC_000012.12:108591579:A:T
Gene:: TMEM119 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000057/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.108591580A>C, NC_000012.12:g.108591580A>G, NC_000012.12:g.108591580A>T, NC_000012.11:g.108985356A>C, NC_000012.11:g.108985356A>G, NC_000012.11:g.108985356A>T, XM_011538271.3:c.804T>G, XM_011538271.3:c.804T>C, XM_011538271.3:c.804T>A, XM_011538271.2:c.804T>G, XM_011538271.2:c.804T>C, XM_011538271.2:c.804T>A, XM_011538271.1:c.804T>G, XM_011538271.1:c.804T>C, XM_011538271.1:c.804T>A, NM_181724.3:c.804T>G, NM_181724.3:c.804T>C, NM_181724.3:c.804T>A, NM_181724.2:c.804T>G, NM_181724.2:c.804T>C, NM_181724.2:c.804T>A

Select item 148440096319.

rs1484400963 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 12:108589775 (GRCh38)
12:108983551 (GRCh37)
Canonical SPDI:: NC_000012.12:108589774:G:
Gene:: TMEM119 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.108589775del, NC_000012.11:g.108983551del

Select item 148433520420.

rs1484335204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:108595781 (GRCh38)
12:108989557 (GRCh37)
Canonical SPDI:: NC_000012.12:108595780:C:T
Gene:: TMEM119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.108595781C>T, NC_000012.11:g.108989557C>T

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