SNP Links for Gene (Select 114801) - SNP

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Select item 14915612621.

rs1491561262 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:130429684 (GRCh38)
6:130750829 (GRCh37)
Canonical SPDI:: NC_000006.12:130429683:TA:
Gene:: TMEM200A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.130429684_130429685del, NC_000006.11:g.130750829_130750830del

Select item 14914148242.

rs1491414824 [Homo sapiens]

Variant type:: SNV:
Alleles:: CC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14913065763.

rs1491306576 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:130400516 (GRCh38)
6:130721661 (GRCh37)
Canonical SPDI:: NC_000006.12:130400515:AT:
Gene:: TMEM200A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000028/3 (GnomAD)
HGVS:: NC_000006.12:g.130400516_130400517del, NC_000006.11:g.130721661_130721662del

Select item 14913045354.

rs1491304535 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 6:130436484 (GRCh38)
6:130757630 (GRCh37)
Canonical SPDI:: NC_000006.12:130436484::A,NC_000006.12:130436484::AA
Gene:: TMEM200A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000006.12:g.130436484_130436485insA, NC_000006.12:g.130436484_130436485insAA, NC_000006.11:g.130757629_130757630insA, NC_000006.11:g.130757629_130757630insAA

Select item 14912854685.

rs1491285468 has merged into rs34448742 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT [Show Flanks]
Chromosome:: 6:130400527 (GRCh38)
6:130721672 (GRCh37)
Canonical SPDI:: NC_000006.12:130400516:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:130400516:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:130400516:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:130400516:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: TMEM200A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.1967/118 (NorthernSweden)
-=0.225/9 (GENOME_DK)
-=0.4079/2043 (1000Genomes)
HGVS:: NC_000006.12:g.130400527_130400530del, NC_000006.12:g.130400529_130400530del, NC_000006.12:g.130400530del, NC_000006.12:g.130400530dup, NC_000006.11:g.130721672_130721675del, NC_000006.11:g.130721674_130721675del, NC_000006.11:g.130721675del, NC_000006.11:g.130721675dup

Select item 14911604486.

rs1491160448 has merged into rs762866765 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 6:130426469 (GRCh38)
6:130747614 (GRCh37)
Canonical SPDI:: NC_000006.12:130426460:CCCCCCCCCCC:CCCCCCCC,NC_000006.12:130426460:CCCCCCCCCCC:CCCCCCCCC,NC_000006.12:130426460:CCCCCCCCCCC:CCCCCCCCCC,NC_000006.12:130426460:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000006.12:130426460:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000006.12:130426460:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000006.12:130426460:CCCCCCCCCCC:CCCCCCCCCCCCCCC
Gene:: TMEM200A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCC=0./0 (ALFA)
C=0.15/6 (GENOME_DK)
HGVS:: NC_000006.12:g.130426469_130426471del, NC_000006.12:g.130426470_130426471del, NC_000006.12:g.130426471del, NC_000006.12:g.130426471dup, NC_000006.12:g.130426470_130426471dup, NC_000006.12:g.130426469_130426471dup, NC_000006.12:g.130426468_130426471dup, NC_000006.11:g.130747614_130747616del, NC_000006.11:g.130747615_130747616del, NC_000006.11:g.130747616del, NC_000006.11:g.130747616dup, NC_000006.11:g.130747615_130747616dup, NC_000006.11:g.130747614_130747616dup, NC_000006.11:g.130747613_130747616dup

Select item 14911410977.

rs1491141097 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:130414431 (GRCh38)
6:130735576 (GRCh37)
Canonical SPDI:: NC_000006.12:130414430:CA:
Gene:: TMEM200A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.130414431_130414432del, NC_000006.11:g.130735576_130735577del

Select item 14910825038.

rs1491082503 has merged into rs11154577 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 6:130412110 (GRCh38)
6:130733255 (GRCh37)
Canonical SPDI:: NC_000006.12:130412098:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:130412098:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:130412098:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:130412098:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:130412098:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:130412098:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:130412098:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: TMEM200A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.15448/604 (1000Genomes)
T=0.225/9 (GENOME_DK)
HGVS:: NC_000006.12:g.130412110_130412112del, NC_000006.12:g.130412111_130412112del, NC_000006.12:g.130412112del, NC_000006.12:g.130412112dup, NC_000006.12:g.130412111_130412112dup, NC_000006.12:g.130412110_130412112dup, NC_000006.12:g.130412107_130412112dup, NC_000006.11:g.130733255_130733257del, NC_000006.11:g.130733256_130733257del, NC_000006.11:g.130733257del, NC_000006.11:g.130733257dup, NC_000006.11:g.130733256_130733257dup, NC_000006.11:g.130733255_130733257dup, NC_000006.11:g.130733252_130733257dup

Select item 14910323639.

rs1491032363 has merged into rs77519811 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:130396374 (GRCh38)
6:130717519 (GRCh37)
Canonical SPDI:: NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMEM200A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.124601/624 (1000Genomes)
HGVS:: NC_000006.12:g.130396374_130396380del, NC_000006.12:g.130396377_130396380del, NC_000006.12:g.130396378_130396380del, NC_000006.12:g.130396379_130396380del, NC_000006.12:g.130396380del, NC_000006.12:g.130396380dup, NC_000006.12:g.130396379_130396380dup, NC_000006.12:g.130396378_130396380dup, NC_000006.12:g.130396372_130396380dup, NC_000006.11:g.130717519_130717525del, NC_000006.11:g.130717522_130717525del, NC_000006.11:g.130717523_130717525del, NC_000006.11:g.130717524_130717525del, NC_000006.11:g.130717525del, NC_000006.11:g.130717525dup, NC_000006.11:g.130717524_130717525dup, NC_000006.11:g.130717523_130717525dup, NC_000006.11:g.130717517_130717525dup

Select item 149100739410.

rs1491007394 has merged into rs140554338 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCT>-,CT,CTCTCT,CTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 6:130416329 (GRCh38)
6:130737474 (GRCh37)
Canonical SPDI:: NC_000006.12:130416327:TCTCTCTCTCT:T,NC_000006.12:130416327:TCTCTCTCTCT:TCT,NC_000006.12:130416327:TCTCTCTCTCT:TCTCTCT,NC_000006.12:130416327:TCTCTCTCTCT:TCTCTCTCT,NC_000006.12:130416327:TCTCTCTCTCT:TCTCTCTCTCTCT,NC_000006.12:130416327:TCTCTCTCTCT:TCTCTCTCTCTCTCT
Gene:: TMEM200A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.004741/1255 (TOPMED)
-=0.007125/29 (1000Genomes)
TC=0.131667/79 (NorthernSweden)
TC=0.132265/132 (GoNL)
TC=0.15/6 (GENOME_DK)
TC=0.391376/717 (Korea1K)
HGVS:: NC_000006.12:g.130416329_130416338del, NC_000006.12:g.130416329CT[1], NC_000006.12:g.130416329CT[3], NC_000006.12:g.130416329CT[4], NC_000006.12:g.130416329CT[6], NC_000006.12:g.130416329CT[7], NC_000006.11:g.130737474_130737483del, NC_000006.11:g.130737474CT[1], NC_000006.11:g.130737474CT[3], NC_000006.11:g.130737474CT[4], NC_000006.11:g.130737474CT[6], NC_000006.11:g.130737474CT[7]

Select item 149100215811.

rs1491002158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:130436126 (GRCh38)
6:130757271 (GRCh37)
Canonical SPDI:: NC_000006.12:130436125:C:T
Gene:: TMEM200A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.130436126C>T, NC_000006.11:g.130757271C>T

Select item 149097383312.

rs1490973833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:130421318 (GRCh38)
6:130742463 (GRCh37)
Canonical SPDI:: NC_000006.12:130421317:T:G
Gene:: TMEM200A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.130421318T>G, NC_000006.11:g.130742463T>G, NM_001258278.2:c.-57T>G, NM_001258278.1:c.-57T>G

Select item 149094285813.

rs1490942858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:130367801 (GRCh38)
6:130688946 (GRCh37)
Canonical SPDI:: NC_000006.12:130367800:A:T
Gene:: TMEM200A (Varview), SAMD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.130367801A>T, NC_000006.11:g.130688946A>T

Select item 149079755714.

rs1490797557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:130396497 (GRCh38)
6:130717642 (GRCh37)
Canonical SPDI:: NC_000006.12:130396496:T:C
Gene:: TMEM200A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000006.12:g.130396497T>C, NC_000006.11:g.130717642T>C

Select item 149077405515.

rs1490774055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:130379814 (GRCh38)
6:130700959 (GRCh37)
Canonical SPDI:: NC_000006.12:130379813:G:A,NC_000006.12:130379813:G:C
Gene:: TMEM200A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.130379814G>A, NC_000006.12:g.130379814G>C, NC_000006.11:g.130700959G>A, NC_000006.11:g.130700959G>C

Select item 149068260116.

rs1490682601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:130412841 (GRCh38)
6:130733986 (GRCh37)
Canonical SPDI:: NC_000006.12:130412840:C:T
Gene:: TMEM200A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000546/1 (Korea1K)
T=0.000684/2 (KOREAN)
HGVS:: NC_000006.12:g.130412841C>T, NC_000006.11:g.130733986C>T

Select item 149058892117.

rs1490588921 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->A
Chromosome:: no mapping
Canonical SPDI:

Select item 149056023918.

rs1490560239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:130369749 (GRCh38)
6:130690894 (GRCh37)
Canonical SPDI:: NC_000006.12:130369748:T:A
Gene:: TMEM200A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.130369749T>A, NC_000006.11:g.130690894T>A

Select item 149054246119.

rs1490542461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:130389214 (GRCh38)
6:130710359 (GRCh37)
Canonical SPDI:: NC_000006.12:130389213:C:T
Gene:: TMEM200A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000006.12:g.130389214C>T, NC_000006.11:g.130710359C>T

Select item 149053452220.

rs1490534522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:130370989 (GRCh38)
6:130692134 (GRCh37)
Canonical SPDI:: NC_000006.12:130370988:T:G
Gene:: TMEM200A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.130370989T>G, NC_000006.11:g.130692134T>G

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