SNP Links for Gene (Select 51003) - SNP

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Select item 14913998441.

rs1491399844 [Homo sapiens]

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

Select item 14912392362.

rs1491239236 has merged into rs57965628 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:6651129 (GRCh38)
17:6554449 (GRCh37)
Canonical SPDI:: NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:6651120:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAA=0.2857/1431 (1000Genomes)
HGVS:: NC_000017.11:g.6651129_6651137del, NC_000017.11:g.6651133_6651137del, NC_000017.11:g.6651134_6651137del, NC_000017.11:g.6651135_6651137del, NC_000017.11:g.6651136_6651137del, NC_000017.11:g.6651137del, NC_000017.11:g.6651137dup, NC_000017.11:g.6651136_6651137dup, NC_000017.11:g.6651135_6651137dup, NC_000017.11:g.6651134_6651137dup, NC_000017.11:g.6651133_6651137dup, NC_000017.11:g.6651132_6651137dup, NC_000017.11:g.6651131_6651137dup, NC_000017.11:g.6651130_6651137dup, NC_000017.11:g.6651129_6651137dup, NC_000017.11:g.6651128_6651137dup, NC_000017.11:g.6651127_6651137dup, NC_000017.11:g.6651126_6651137dup, NC_000017.11:g.6651125_6651137dup, NC_000017.11:g.6651124_6651137dup, NC_000017.11:g.6651123_6651137dup, NC_000017.11:g.6651122_6651137dup, NC_000017.11:g.6651121_6651137dup, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651137_6651138insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.6651121_6651137A[45]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.6554449_6554457del, NC_000017.10:g.6554453_6554457del, NC_000017.10:g.6554454_6554457del, NC_000017.10:g.6554455_6554457del, NC_000017.10:g.6554456_6554457del, NC_000017.10:g.6554457del, NC_000017.10:g.6554457dup, NC_000017.10:g.6554456_6554457dup, NC_000017.10:g.6554455_6554457dup, NC_000017.10:g.6554454_6554457dup, NC_000017.10:g.6554453_6554457dup, NC_000017.10:g.6554452_6554457dup, NC_000017.10:g.6554451_6554457dup, NC_000017.10:g.6554450_6554457dup, NC_000017.10:g.6554449_6554457dup, NC_000017.10:g.6554448_6554457dup, NC_000017.10:g.6554447_6554457dup, NC_000017.10:g.6554446_6554457dup, NC_000017.10:g.6554445_6554457dup, NC_000017.10:g.6554444_6554457dup, NC_000017.10:g.6554443_6554457dup, NC_000017.10:g.6554442_6554457dup, NC_000017.10:g.6554441_6554457dup, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554457_6554458insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6554441_6554457A[45]CAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14909356423.

rs1490935642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:6643998 (GRCh38)
17:6547318 (GRCh37)
Canonical SPDI:: NC_000017.11:6643997:T:G
Gene:: MED31 (Varview), TXNDC17 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.6643998T>G, NC_000017.10:g.6547318T>G, NG_054885.1:g.1930A>C, NM_032731.4:c.*979T>G, NM_032731.3:c.*979T>G, NM_016060.3:c.*469A>C, NM_016060.2:c.*469A>C

Select item 14907246024.

rs1490724602 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:6652698 (GRCh38)
17:6556017 (GRCh37)
Canonical SPDI:: NC_000017.11:6652697:G:
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.6652698del, NC_000017.10:g.6556017del, NM_001105520.2:c.*428del, NM_001105520.1:c.*428del

Select item 14905617565.

rs1490561756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:6653271 (GRCh38)
17:6556590 (GRCh37)
Canonical SPDI:: NC_000017.11:6653270:A:G
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6653271A>G, NC_000017.10:g.6556590A>G, NM_001105520.2:c.*1001A>G, NM_001105520.1:c.*1001A>G

Select item 14904780016.

rs1490478001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:6651362 (GRCh38)
17:6554682 (GRCh37)
Canonical SPDI:: NC_000017.11:6651361:G:C
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: 2KB_upstream_variant,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.6651362G>C, NC_000017.10:g.6554682G>C

Select item 14902597617.

rs1490259761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6645493 (GRCh38)
17:6548813 (GRCh37)
Canonical SPDI:: NC_000017.11:6645492:G:A
Gene:: MED31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.6645493G>A, NC_000017.10:g.6548813G>A, NG_054885.1:g.435C>T

Select item 14892442678.

rs1489244267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:6649944 (GRCh38)
17:6553264 (GRCh37)
Canonical SPDI:: NC_000017.11:6649943:A:G
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6649944A>G, NC_000017.10:g.6553264A>G

Select item 14890876999.

rs1489087699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:6646018 (GRCh38)
17:6549338 (GRCh37)
Canonical SPDI:: NC_000017.11:6646017:C:G
Gene:: MED31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6646018C>G, NC_000017.10:g.6549338C>G

Select item 148866090310.

rs1488660903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6647430 (GRCh38)
17:6550750 (GRCh37)
Canonical SPDI:: NC_000017.11:6647429:C:T
Gene:: MED31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.6647430C>T, NC_000017.10:g.6550750C>T

Select item 148863980411.

rs1488639804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6652076 (GRCh38)
17:6555396 (GRCh37)
Canonical SPDI:: NC_000017.11:6652075:C:T
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6652076C>T, NC_000017.10:g.6555396C>T, NM_001105520.2:c.163C>T, NM_001105520.1:c.163C>T, NP_001098990.1:p.Pro55Ser

Select item 148856941512.

rs1488569415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:6646134 (GRCh38)
17:6549454 (GRCh37)
Canonical SPDI:: NC_000017.11:6646133:C:A
Gene:: MED31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6646134C>A, NC_000017.10:g.6549454C>A

Select item 148839905813.

rs1488399058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6650250 (GRCh38)
17:6553570 (GRCh37)
Canonical SPDI:: NC_000017.11:6650249:G:A
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.6650250G>A, NC_000017.10:g.6553570G>A

Select item 148780420614.

rs1487804206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:6643984 (GRCh38)
17:6547304 (GRCh37)
Canonical SPDI:: NC_000017.11:6643983:C:A
Gene:: MED31 (Varview), TXNDC17 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.6643984C>A, NC_000017.10:g.6547304C>A, NG_054885.1:g.1944G>T, NM_032731.4:c.*965C>A, NM_032731.3:c.*965C>A, NM_016060.3:c.*483G>T, NM_016060.2:c.*483G>T

Select item 148744546415.

rs1487445464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:6651704 (GRCh38)
17:6555024 (GRCh37)
Canonical SPDI:: NC_000017.11:6651703:A:G
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.00006/16 (TOPMED)
HGVS:: NC_000017.11:g.6651704A>G, NC_000017.10:g.6555024A>G

Select item 148739328116.

rs1487393281 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGGG [Show Flanks]
Chromosome:: 17:6651091 (GRCh38)
17:6554412 (GRCh37)
Canonical SPDI:: NC_000017.11:6651091::TGGG
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGGG=0./0 (ALFA)
TGGG=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.6651091_6651092insTGGG, NC_000017.10:g.6554411_6554412insTGGG

Select item 148688807117.

rs1486888071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6653138 (GRCh38)
17:6556457 (GRCh37)
Canonical SPDI:: NC_000017.11:6653137:C:T
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.6653138C>T, NC_000017.10:g.6556457C>T, NM_001105520.2:c.*868C>T, NM_001105520.1:c.*868C>T

Select item 148678546218.

rs1486785462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:6653609 (GRCh38)
17:6556928 (GRCh37)
Canonical SPDI:: NC_000017.11:6653608:A:G
Gene:: C17orf100 (Varview), MIR4520-2 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.6653609A>G, NC_000017.10:g.6556928A>G

Select item 148666333219.

rs1486663332 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:6644691 (GRCh38)
17:6548011 (GRCh37)
Canonical SPDI:: NC_000017.11:6644690:A:G
Gene:: MED31 (Varview), TXNDC17 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6644691A>G, NC_000017.10:g.6548011A>G, NG_054885.1:g.1237T>C

Select item 148611940420.

rs1486119404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6645319 (GRCh38)
17:6548639 (GRCh37)
Canonical SPDI:: NC_000017.11:6645318:G:A
Gene:: MED31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6645319G>A, NC_000017.10:g.6548639G>A, NG_054885.1:g.609C>T

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