SNP Links for Gene (Select 8190) - SNP

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Select item 14915358241.

rs1491535824 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAT [Show Flanks]
Chromosome:: 19:40776735 (GRCh38)
19:41282641 (GRCh37)
Canonical SPDI:: NC_000019.10:40776735::AAT
Gene:: MIA (Varview), RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAT=0./0 (ALFA)
AAT=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40776735_40776736insAAT, NC_000019.9:g.41282640_41282641insAAT

Select item 14914391552.

rs1491439155 has merged into rs35547763 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:40773442 (GRCh38)
19:41279347 (GRCh37)
Canonical SPDI:: NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40773433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MIA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.3482/1744 (1000Genomes)
HGVS:: NC_000019.10:g.40773442_40773454del, NC_000019.10:g.40773443_40773454del, NC_000019.10:g.40773445_40773454del, NC_000019.10:g.40773447_40773454del, NC_000019.10:g.40773448_40773454del, NC_000019.10:g.40773449_40773454del, NC_000019.10:g.40773450_40773454del, NC_000019.10:g.40773451_40773454del, NC_000019.10:g.40773452_40773454del, NC_000019.10:g.40773453_40773454del, NC_000019.10:g.40773454del, NC_000019.10:g.40773454dup, NC_000019.10:g.40773453_40773454dup, NC_000019.10:g.40773452_40773454dup, NC_000019.10:g.40773451_40773454dup, NC_000019.10:g.40773450_40773454dup, NC_000019.10:g.40773446_40773454dup, NC_000019.10:g.40773436_40773454dup, NC_000019.9:g.41279347_41279359del, NC_000019.9:g.41279348_41279359del, NC_000019.9:g.41279350_41279359del, NC_000019.9:g.41279352_41279359del, NC_000019.9:g.41279353_41279359del, NC_000019.9:g.41279354_41279359del, NC_000019.9:g.41279355_41279359del, NC_000019.9:g.41279356_41279359del, NC_000019.9:g.41279357_41279359del, NC_000019.9:g.41279358_41279359del, NC_000019.9:g.41279359del, NC_000019.9:g.41279359dup, NC_000019.9:g.41279358_41279359dup, NC_000019.9:g.41279357_41279359dup, NC_000019.9:g.41279356_41279359dup, NC_000019.9:g.41279355_41279359dup, NC_000019.9:g.41279351_41279359dup, NC_000019.9:g.41279341_41279359dup

Select item 14913115503.

rs1491311550 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:40776735 (GRCh38)
19:41282640 (GRCh37)
Canonical SPDI:: NC_000019.10:40776734:CT:
Gene:: MIA (Varview), RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.40776735_40776736del, NC_000019.9:g.41282640_41282641del

Select item 14910940204.

rs1491094020 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:40773433 (GRCh38)
19:41279338 (GRCh37)
Canonical SPDI:: NC_000019.10:40773432:CA:
Gene:: MIA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.40773433_40773434del, NC_000019.9:g.41279338_41279339del

Select item 14898535965.

rs1489853596 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 19:40773279 (GRCh38)
19:41279184 (GRCh37)
Canonical SPDI:: NC_000019.10:40773278:C:
Gene:: MIA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.40773279del, NC_000019.9:g.41279184del

Select item 14888501916.

rs1488850191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40775238 (GRCh38)
19:41281143 (GRCh37)
Canonical SPDI:: NC_000019.10:40775237:G:A
Gene:: MIA (Varview), MIA-RAB4B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000019.10:g.40775238G>A, NC_000019.9:g.41281143G>A

Select item 14875246967.

rs1487524696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40777834 (GRCh38)
19:41283739 (GRCh37)
Canonical SPDI:: NC_000019.10:40777833:G:A
Gene:: MIA (Varview), RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.40777834G>A, NC_000019.9:g.41283739G>A

Select item 14867110958.

rs1486711095 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:40777179 (GRCh38)
19:41283084 (GRCh37)
Canonical SPDI:: NC_000019.10:40777178:T:A,NC_000019.10:40777178:T:C
Gene:: MIA (Varview), RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.40777179T>A, NC_000019.10:g.40777179T>C, NC_000019.9:g.41283084T>A, NC_000019.9:g.41283084T>C

Select item 14861932889.

rs1486193288 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:40777337 (GRCh38)
19:41283242 (GRCh37)
Canonical SPDI:: NC_000019.10:40777336:A:G
Gene:: MIA (Varview), RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40777337A>G, NC_000019.9:g.41283242A>G

Select item 148581287510.

rs1485812875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40775727 (GRCh38)
19:41281632 (GRCh37)
Canonical SPDI:: NC_000019.10:40775726:G:A
Gene:: MIA (Varview), MIA-RAB4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40775727G>A, NC_000019.9:g.41281632G>A

Select item 148434806011.

rs1484348060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40775813 (GRCh38)
19:41281718 (GRCh37)
Canonical SPDI:: NC_000019.10:40775812:C:T
Gene:: MIA (Varview), MIA-RAB4B (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40775813C>T, NC_000019.9:g.41281718C>T, NM_006533.4:c.189C>T, NM_006533.3:c.189C>T, NM_001202553.2:c.189C>T, NM_001202553.1:c.189C>T, NR_037775.1:n.195C>T

Select item 148368887412.

rs1483688874 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:40774399 (GRCh38)
19:41280304 (GRCh37)
Canonical SPDI:: NC_000019.10:40774398:T:C
Gene:: MIA (Varview), MIA-RAB4B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.40774399T>C, NC_000019.9:g.41280304T>C

Select item 148350046013.

rs1483500460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:40775138 (GRCh38)
19:41281043 (GRCh37)
Canonical SPDI:: NC_000019.10:40775137:C:A
Gene:: MIA (Varview), MIA-RAB4B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.40775138C>A, NC_000019.9:g.41281043C>A

Select item 148309049414.

rs1483090494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40773677 (GRCh38)
19:41279582 (GRCh37)
Canonical SPDI:: NC_000019.10:40773676:G:A
Gene:: MIA (Varview), MIA-RAB4B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.40773677G>A, NC_000019.9:g.41279582G>A

Select item 148304315915.

rs1483043159 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 148271741116.

rs1482717411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40774257 (GRCh38)
19:41280162 (GRCh37)
Canonical SPDI:: NC_000019.10:40774256:G:A
Gene:: MIA (Varview), MIA-RAB4B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40774257G>A, NC_000019.9:g.41280162G>A

Select item 148253867617.

rs1482538676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:40773869 (GRCh38)
19:41279774 (GRCh37)
Canonical SPDI:: NC_000019.10:40773868:G:T
Gene:: MIA (Varview), MIA-RAB4B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000019.10:g.40773869G>T, NC_000019.9:g.41279774G>T

Select item 148233205818.

rs1482332058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:40777155 (GRCh38)
19:41283060 (GRCh37)
Canonical SPDI:: NC_000019.10:40777154:C:G
Gene:: MIA (Varview), RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000071/1 (TOMMO)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.40777155C>G, NC_000019.9:g.41283060C>G

Select item 148210627719.

rs1482106277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:40773401 (GRCh38)
19:41279306 (GRCh37)
Canonical SPDI:: NC_000019.10:40773400:C:A,NC_000019.10:40773400:C:T
Gene:: MIA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.40773401C>A, NC_000019.10:g.40773401C>T, NC_000019.9:g.41279306C>A, NC_000019.9:g.41279306C>T

Select item 148110019020.

rs1481100190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40775870 (GRCh38)
19:41281775 (GRCh37)
Canonical SPDI:: NC_000019.10:40775869:C:T
Gene:: MIA (Varview), MIA-RAB4B (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40775870C>T, NC_000019.9:g.41281775C>T, NM_006533.4:c.246C>T, NM_006533.3:c.246C>T, NM_001202553.2:c.246C>T, NM_001202553.1:c.246C>T, NR_037775.1:n.252C>T

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