SNP Links for Gene (Select 2014) - SNP

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Select item 14911721921.

rs1491172192 [Homo sapiens]

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

Select item 14911294612.

rs1491129461 has merged into rs746709296 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:48328421 (GRCh38)
19:48831678 (GRCh37)
Canonical SPDI:: NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48328411:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EMP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.45/18 (GENOME_DK)
HGVS:: NC_000019.10:g.48328421_48328432del, NC_000019.10:g.48328422_48328432del, NC_000019.10:g.48328423_48328432del, NC_000019.10:g.48328424_48328432del, NC_000019.10:g.48328426_48328432del, NC_000019.10:g.48328427_48328432del, NC_000019.10:g.48328428_48328432del, NC_000019.10:g.48328429_48328432del, NC_000019.10:g.48328430_48328432del, NC_000019.10:g.48328431_48328432del, NC_000019.10:g.48328432del, NC_000019.10:g.48328432dup, NC_000019.10:g.48328431_48328432dup, NC_000019.10:g.48328430_48328432dup, NC_000019.10:g.48328429_48328432dup, NC_000019.10:g.48328428_48328432dup, NC_000019.10:g.48328427_48328432dup, NC_000019.10:g.48328426_48328432dup, NC_000019.10:g.48328425_48328432dup, NC_000019.10:g.48328424_48328432dup, NC_000019.10:g.48328423_48328432dup, NC_000019.10:g.48328422_48328432dup, NC_000019.9:g.48831678_48831689del, NC_000019.9:g.48831679_48831689del, NC_000019.9:g.48831680_48831689del, NC_000019.9:g.48831681_48831689del, NC_000019.9:g.48831683_48831689del, NC_000019.9:g.48831684_48831689del, NC_000019.9:g.48831685_48831689del, NC_000019.9:g.48831686_48831689del, NC_000019.9:g.48831687_48831689del, NC_000019.9:g.48831688_48831689del, NC_000019.9:g.48831689del, NC_000019.9:g.48831689dup, NC_000019.9:g.48831688_48831689dup, NC_000019.9:g.48831687_48831689dup, NC_000019.9:g.48831686_48831689dup, NC_000019.9:g.48831685_48831689dup, NC_000019.9:g.48831684_48831689dup, NC_000019.9:g.48831683_48831689dup, NC_000019.9:g.48831682_48831689dup, NC_000019.9:g.48831681_48831689dup, NC_000019.9:g.48831680_48831689dup, NC_000019.9:g.48831679_48831689dup

Select item 14909584353.

rs1490958435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48328218 (GRCh38)
19:48831475 (GRCh37)
Canonical SPDI:: NC_000019.10:48328217:T:C
Gene:: EMP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.48328218T>C, NC_000019.9:g.48831475T>C

Select item 14908001674.

rs1490800167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48325991 (GRCh38)
19:48829248 (GRCh37)
Canonical SPDI:: NC_000019.10:48325990:C:T
Gene:: EMP3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_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_000019.10:g.48325991C>T, NC_000019.9:g.48829248C>T, XM_011526605.4:c.-78C>T, XM_011526605.3:c.-78C>T, XM_011526605.2:c.-78C>T, XM_011526605.1:c.-78C>T

Select item 14900012955.

rs1490001295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48327317 (GRCh38)
19:48830574 (GRCh37)
Canonical SPDI:: NC_000019.10:48327316:C:T
Gene:: EMP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48327317C>T, NC_000019.9:g.48830574C>T

Select item 14899836336.

rs1489983633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:48327168 (GRCh38)
19:48830425 (GRCh37)
Canonical SPDI:: NC_000019.10:48327167:G:A,NC_000019.10:48327167:G:T
Gene:: EMP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48327168G>A, NC_000019.10:g.48327168G>T, NC_000019.9:g.48830425G>A, NC_000019.9:g.48830425G>T

Select item 14899447917.

rs1489944791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48327199 (GRCh38)
19:48830456 (GRCh37)
Canonical SPDI:: NC_000019.10:48327198:A:G
Gene:: EMP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48327199A>G, NC_000019.9:g.48830456A>G

Select item 14880605958.

rs1488060595 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:48330905 (GRCh38)
19:48834162 (GRCh37)
Canonical SPDI:: NC_000019.10:48330903:TCT:T
Gene:: EMP3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.48330905_48330906del, NC_000019.9:g.48834162_48834163del

Select item 14877030409.

rs1487703040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48329796 (GRCh38)
19:48833053 (GRCh37)
Canonical SPDI:: NC_000019.10:48329795:C:T
Gene:: EMP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.48329796C>T, NC_000019.9:g.48833053C>T

Select item 148700869010.

rs1487008690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:48324666 (GRCh38)
19:48827923 (GRCh37)
Canonical SPDI:: NC_000019.10:48324665:C:A,NC_000019.10:48324665:C:T
Gene:: EMP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000009/1 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.48324666C>A, NC_000019.10:g.48324666C>T, NC_000019.9:g.48827923C>A, NC_000019.9:g.48827923C>T, NG_033251.1:g.410G>T, NG_033251.1:g.410G>A

Select item 148676492811.

rs1486764928 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:48329865 (GRCh38)
19:48833122 (GRCh37)
Canonical SPDI:: NC_000019.10:48329863:TAT:T
Gene:: EMP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.48329865_48329866del, NC_000019.9:g.48833122_48833123del

Select item 148663219812.

rs1486632198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48324945 (GRCh38)
19:48828202 (GRCh37)
Canonical SPDI:: NC_000019.10:48324944:C:T
Gene:: EMP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.48324945C>T, NC_000019.9:g.48828202C>T, NG_033251.1:g.131G>A

Select item 148660369613.

rs1486603696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48325985 (GRCh38)
19:48829242 (GRCh37)
Canonical SPDI:: NC_000019.10:48325984:C:T
Gene:: EMP3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48325985C>T, NC_000019.9:g.48829242C>T

Select item 148630883114.

rs1486308831 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTT>- [Show Flanks]
Chromosome:: 19:48324649 (GRCh38)
19:48827906 (GRCh37)
Canonical SPDI:: NC_000019.10:48324645:TTTGTTT:TTT
Gene:: EMP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTT=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.48324649_48324652del, NC_000019.9:g.48827906_48827909del, NG_033251.1:g.427_430del

Select item 148487070715.

rs1484870707 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTGTCTCT>- [Show Flanks]
Chromosome:: 19:48329400 (GRCh38)
19:48832657 (GRCh37)
Canonical SPDI:: NC_000019.10:48329394:TCTCTGCTGTCTCT:TCTCT
Gene:: EMP3 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
HGVS:: NC_000019.10:g.48329400_48329408del, NC_000019.9:g.48832657_48832665del, XM_011526605.4:c.230_238del, XM_011526605.3:c.230_238del, XM_011526605.2:c.230_238del, XM_011526605.1:c.230_238del, NM_001425.3:c.230_238del, NM_001425.2:c.230_238del, NM_001313905.1:c.230_238del, XP_011524907.1:p.Cys77_Leu79del, NP_001416.1:p.Cys77_Leu79del, NP_001300834.1:p.Cys77_Leu79del

Select item 148467576916.

rs1484675769 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:48324198 (GRCh38)
19:48827455 (GRCh37)
Canonical SPDI:: NC_000019.10:48324197:G:
Gene:: EMP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.48324198del, NC_000019.9:g.48827455del, NG_033251.1:g.878del

Select item 148441067817.

rs1484410678 has merged into rs201915957 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 19:48323501 (GRCh38)
19:48826758 (GRCh37)
Canonical SPDI:: NC_000019.10:48323492:AAAAAAAAAA:AAAAAAAA,NC_000019.10:48323492:AAAAAAAAAA:AAAAAAAAA,NC_000019.10:48323492:AAAAAAAAAA:AAAAAAAAAAA
Gene:: ODAD1 (Varview), LOC124904735 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.00836/5 (NorthernSweden)
A=0.02305/23 (GoNL)
A=0.02316/116 (1000Genomes)
A=0.025/1 (GENOME_DK)
A=0.0821/1376 (TOMMO)
A=0.09662/177 (Korea1K)
HGVS:: NC_000019.10:g.48323501_48323502del, NC_000019.10:g.48323502del, NC_000019.10:g.48323502dup, NC_000019.9:g.48826758_48826759del, NC_000019.9:g.48826759del, NC_000019.9:g.48826759dup, NG_033251.1:g.1582_1583del, NG_033251.1:g.1583del, NG_033251.1:g.1583dup, XR_007067284.1:n.1222_1223del, XR_007067284.1:n.1223del, XR_007067284.1:n.1223dup

Select item 148366564418.

rs1483665644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48326745 (GRCh38)
19:48830002 (GRCh37)
Canonical SPDI:: NC_000019.10:48326744:C:T
Gene:: EMP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000076/20 (TOPMED)
HGVS:: NC_000019.10:g.48326745C>T, NC_000019.9:g.48830002C>T

Select item 148347583919.

rs1483475839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48330655 (GRCh38)
19:48833912 (GRCh37)
Canonical SPDI:: NC_000019.10:48330654:C:T
Gene:: EMP3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000019.10:g.48330655C>T, NC_000019.9:g.48833912C>T

Select item 148335683220.

rs1483356832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48327437 (GRCh38)
19:48830694 (GRCh37)
Canonical SPDI:: NC_000019.10:48327436:T:C
Gene:: EMP3 (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_000019.10:g.48327437T>C, NC_000019.9:g.48830694T>C

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