SNP Links for Gene (Select 199675) - SNP

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Select item 14912645641.

rs1491264564 has merged into rs55775946 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCCC>-,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCC [Show Flanks]
Chromosome:: 19:7679194 (GRCh38)
19:7744080 (GRCh37)
Canonical SPDI:: NC_000019.10:7679189:CCCCCCCCCCCC:CCCC,NC_000019.10:7679189:CCCCCCCCCCCC:CCCCCCCC,NC_000019.10:7679189:CCCCCCCCCCCC:CCCCCCCCC,NC_000019.10:7679189:CCCCCCCCCCCC:CCCCCCCCCC,NC_000019.10:7679189:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000019.10:7679189:CCCCCCCCCCCC:CCCCCCCCCCCCC
Gene:: TRAPPC5 (Varview), MCEMP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000019.10:g.7679194_7679201del, NC_000019.10:g.7679198_7679201del, NC_000019.10:g.7679199_7679201del, NC_000019.10:g.7679200_7679201del, NC_000019.10:g.7679201del, NC_000019.10:g.7679201dup, NC_000019.9:g.7744080_7744087del, NC_000019.9:g.7744084_7744087del, NC_000019.9:g.7744085_7744087del, NC_000019.9:g.7744086_7744087del, NC_000019.9:g.7744087del, NC_000019.9:g.7744087dup, NG_055288.1:g.3374_3381del, NG_055288.1:g.3378_3381del, NG_055288.1:g.3379_3381del, NG_055288.1:g.3380_3381del, NG_055288.1:g.3381del, NG_055288.1:g.3381dup, NM_174918.3:c.*80_*87del, NM_174918.3:c.*84_*87del, NM_174918.3:c.*85_*87del, NM_174918.3:c.*86_*87del, NM_174918.3:c.*87del, NM_174918.3:c.*87dup, NM_174918.2:c.*80_*87del, NM_174918.2:c.*84_*87del, NM_174918.2:c.*85_*87del, NM_174918.2:c.*86_*87del, NM_174918.2:c.*87del, NM_174918.2:c.*87dup

Select item 14906524442.

rs1490652444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:7677226 (GRCh38)
19:7742112 (GRCh37)
Canonical SPDI:: NC_000019.10:7677225:G:C
Gene:: MCEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000013/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.7677226G>C, NC_000019.9:g.7742112G>C, NG_055288.1:g.1406G>C

Select item 14898561583.

rs1489856158 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:7675531 (GRCh38)
19:7740417 (GRCh37)
Canonical SPDI:: NC_000019.10:7675530:T:C
Gene:: MCEMP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.7675531T>C, NC_000019.9:g.7740417T>C

Select item 14893296264.

rs1489329626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:7675541 (GRCh38)
19:7740427 (GRCh37)
Canonical SPDI:: NC_000019.10:7675540:T:C
Gene:: MCEMP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.7675541T>C, NC_000019.9:g.7740427T>C

Select item 14872014145.

rs1487201414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:7679766 (GRCh38)
19:7744652 (GRCh37)
Canonical SPDI:: NC_000019.10:7679765:A:G
Gene:: TRAPPC5 (Varview), MCEMP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.7679766A>G, NC_000019.9:g.7744652A>G, NG_055288.1:g.3946A>G, NM_174918.3:c.*652A>G, NM_174918.2:c.*652A>G

Select item 14864804496.

rs1486480449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7677019 (GRCh38)
19:7741905 (GRCh37)
Canonical SPDI:: NC_000019.10:7677018:C:T
Gene:: MCEMP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.7677019C>T, NC_000019.9:g.7741905C>T, NG_055288.1:g.1199C>T

Select item 14864635427.

rs1486463542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:7678705 (GRCh38)
19:7743591 (GRCh37)
Canonical SPDI:: NC_000019.10:7678704:C:A,NC_000019.10:7678704:C:T
Gene:: MCEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.7678705C>A, NC_000019.10:g.7678705C>T, NC_000019.9:g.7743591C>A, NC_000019.9:g.7743591C>T, NG_055288.1:g.2885C>A, NG_055288.1:g.2885C>T

Select item 14854280388.

rs1485428038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:7679902 (GRCh38)
19:7744788 (GRCh37)
Canonical SPDI:: NC_000019.10:7679901:G:A
Gene:: TRAPPC5 (Varview), MCEMP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.7679902G>A, NC_000019.9:g.7744788G>A, NG_055288.1:g.4082G>A

Select item 14846946659.

rs1484694665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7678362 (GRCh38)
19:7743248 (GRCh37)
Canonical SPDI:: NC_000019.10:7678361:C:T
Gene:: MCEMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7678362C>T, NC_000019.9:g.7743248C>T, NG_055288.1:g.2542C>T, NM_174918.3:c.296C>T, NM_174918.2:c.335C>T, NP_777578.3:p.Ser99Phe

Select item 148437930210.

rs1484379302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:7678562 (GRCh38)
19:7743448 (GRCh37)
Canonical SPDI:: NC_000019.10:7678561:A:G
Gene:: MCEMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7678562A>G, NC_000019.9:g.7743448A>G, NG_055288.1:g.2742A>G, NM_174918.3:c.406A>G, NM_174918.2:c.445A>G, NP_777578.3:p.Met136Val

Select item 148428830211.

rs1484288302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:7676440 (GRCh38)
19:7741326 (GRCh37)
Canonical SPDI:: NC_000019.10:7676439:A:G
Gene:: MCEMP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.7676440A>G, NC_000019.9:g.7741326A>G, NG_055288.1:g.620A>G

Select item 148340980312.

rs1483409803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7675425 (GRCh38)
19:7740311 (GRCh37)
Canonical SPDI:: NC_000019.10:7675424:C:T
Gene:: MCEMP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.7675425C>T, NC_000019.9:g.7740311C>T

Select item 148228106913.

rs1482281069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:7677891 (GRCh38)
19:7742777 (GRCh37)
Canonical SPDI:: NC_000019.10:7677890:G:A
Gene:: MCEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.7677891G>A, NC_000019.9:g.7742777G>A, NG_055288.1:g.2071G>A

Select item 148168710214.

rs1481687102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:7680322 (GRCh38)
19:7745208 (GRCh37)
Canonical SPDI:: NC_000019.10:7680321:C:A,NC_000019.10:7680321:C:T
Gene:: TRAPPC5 (Varview), MCEMP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.7680322C>A, NC_000019.10:g.7680322C>T, NC_000019.9:g.7745208C>A, NC_000019.9:g.7745208C>T, NG_055288.1:g.4502C>A, NG_055288.1:g.4502C>T

Select item 148147494015.

rs1481474940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7678225 (GRCh38)
19:7743111 (GRCh37)
Canonical SPDI:: NC_000019.10:7678224:C:T
Gene:: MCEMP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000094/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7678225C>T, NC_000019.9:g.7743111C>T, NG_055288.1:g.2405C>T, NM_174918.3:c.267C>T, NM_174918.2:c.306C>T

Select item 148119054316.

rs1481190543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:7678645 (GRCh38)
19:7743531 (GRCh37)
Canonical SPDI:: NC_000019.10:7678644:C:A
Gene:: MCEMP1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.7678645C>A, NC_000019.9:g.7743531C>A, NG_055288.1:g.2825C>A

Select item 148019089217.

rs1480190892 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA [Show Flanks]
Chromosome:: 19:7677481 (GRCh38)
19:7742368 (GRCh37)
Canonical SPDI:: NC_000019.10:7677481::TTA
Gene:: MCEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTA=0./0 (ALFA)
TTA=0.000004/1 (TOPMED)
TTA=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7677481_7677482insTTA, NC_000019.9:g.7742367_7742368insTTA, NG_055288.1:g.1661_1662insTTA

Select item 148013538818.

rs1480135388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:7675658 (GRCh38)
19:7740544 (GRCh37)
Canonical SPDI:: NC_000019.10:7675657:A:C,NC_000019.10:7675657:A:G
Gene:: MCEMP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7675658A>C, NC_000019.10:g.7675658A>G, NC_000019.9:g.7740544A>C, NC_000019.9:g.7740544A>G

Select item 147841837919.

rs1478418379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:7679409 (GRCh38)
19:7744295 (GRCh37)
Canonical SPDI:: NC_000019.10:7679408:T:C
Gene:: TRAPPC5 (Varview), MCEMP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.7679409T>C, NC_000019.9:g.7744295T>C, NG_055288.1:g.3589T>C, NM_174918.3:c.*295T>C, NM_174918.2:c.*295T>C

Select item 147841724020.

rs1478417240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7679052 (GRCh38)
19:7743938 (GRCh37)
Canonical SPDI:: NC_000019.10:7679051:C:T
Gene:: TRAPPC5 (Varview), MCEMP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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.7679052C>T, NC_000019.9:g.7743938C>T, NG_055288.1:g.3232C>T