SNP Links for Gene (Select 728769) - SNP

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Links from Gene

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Select item 14909891291.

rs1490989129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:78360485 (GRCh38)
5:77656309 (GRCh37)
Canonical SPDI:: NC_000005.10:78360484:C:T
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_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_000005.10:g.78360485C>T, NC_000005.9:g.77656309C>T, NR_105014.1:n.57G>A

Select item 14895911072.

rs1489591107 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:78361910 (GRCh38)
5:77657734 (GRCh37)
Canonical SPDI:: NC_000005.10:78361909:CC:C
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.78361911del, NC_000005.9:g.77657735del

Select item 14892505833.

rs1489250583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:78359661 (GRCh38)
5:77655485 (GRCh37)
Canonical SPDI:: NC_000005.10:78359660:T:C
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000005.10:g.78359661T>C, NC_000005.9:g.77655485T>C, NR_105014.1:n.653A>G

Select item 14892107804.

rs1489210780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:78359070 (GRCh38)
5:77654894 (GRCh37)
Canonical SPDI:: NC_000005.10:78359069:G:C
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_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_000005.10:g.78359070G>C, NC_000005.9:g.77654894G>C, NR_105014.1:n.1244C>G

Select item 14890631365.

rs1489063136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:78360262 (GRCh38)
5:77656086 (GRCh37)
Canonical SPDI:: NC_000005.10:78360261:A:G
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.78360262A>G, NC_000005.9:g.77656086A>G, NR_105014.1:n.280T>C

Select item 14889201056.

rs1488920105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:78359999 (GRCh38)
5:77655823 (GRCh37)
Canonical SPDI:: NC_000005.10:78359998:G:A,NC_000005.10:78359998:G:C
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.78359999G>A, NC_000005.10:g.78359999G>C, NC_000005.9:g.77655823G>A, NC_000005.9:g.77655823G>C

Select item 14882686757.

rs1488268675 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:78359248 (GRCh38)
5:77655072 (GRCh37)
Canonical SPDI:: NC_000005.10:78359247:CC:C
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.78359249del, NC_000005.9:g.77655073del, NR_105014.1:n.1066del

Select item 14864463068.

rs1486446306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:78359157 (GRCh38)
5:77654981 (GRCh37)
Canonical SPDI:: NC_000005.10:78359156:A:G
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_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_000005.10:g.78359157A>G, NC_000005.9:g.77654981A>G, NR_105014.1:n.1157T>C

Select item 14863261289.

rs1486326128 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:78361045 (GRCh38)
5:77656869 (GRCh37)
Canonical SPDI:: NC_000005.10:78361044:A:G
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.78361045A>G, NC_000005.9:g.77656869A>G

Select item 148630478310.

rs1486304783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:78362487 (GRCh38)
5:77658311 (GRCh37)
Canonical SPDI:: NC_000005.10:78362486:C:G,NC_000005.10:78362486:C:T
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.78362487C>G, NC_000005.10:g.78362487C>T, NC_000005.9:g.77658311C>G, NC_000005.9:g.77658311C>T

Select item 148621361311.

rs1486213613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:78361992 (GRCh38)
5:77657816 (GRCh37)
Canonical SPDI:: NC_000005.10:78361991:A:G
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.78361992A>G, NC_000005.9:g.77657816A>G

Select item 148487807512.

rs1484878075 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:78358286 (GRCh38)
5:77654110 (GRCh37)
Canonical SPDI:: NC_000005.10:78358285:A:T
Gene:: SCAMP1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000142/2 (TOMMO)
HGVS:: NC_000005.10:g.78358286A>T, NC_000005.9:g.77654110A>T

Select item 148408263413.

rs1484082634 has merged into rs774711424 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 5:78362096 (GRCh38)
5:77657920 (GRCh37)
Canonical SPDI:: NC_000005.10:78362085:TTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:78362085:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:78362085:TTTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00155/26 (TOMMO)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000005.10:g.78362096_78362097del, NC_000005.10:g.78362097del, NC_000005.10:g.78362097dup, NC_000005.9:g.77657920_77657921del, NC_000005.9:g.77657921del, NC_000005.9:g.77657921dup

Select item 148340214914.

rs1483402149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:78359139 (GRCh38)
5:77654963 (GRCh37)
Canonical SPDI:: NC_000005.10:78359138:T:C
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000005.10:g.78359139T>C, NC_000005.9:g.77654963T>C, NR_105014.1:n.1175A>G

Select item 148327277215.

rs1483272772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:78360694 (GRCh38)
5:77656518 (GRCh37)
Canonical SPDI:: NC_000005.10:78360693:C:G
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.78360694C>G, NC_000005.9:g.77656518C>G, NM_004866.6:c.23C>G, NM_004866.5:c.23C>G, NM_004866.4:c.23C>G, XM_011543727.4:c.23C>G, XM_011543727.3:c.23C>G, XM_011543727.2:c.23C>G, XM_011543727.1:c.23C>G, NM_001290229.2:c.23C>G, NM_001290229.1:c.23C>G, NR_110885.2:n.78C>G, NR_110885.1:n.192C>G, NM_052822.2:c.23C>G, NM_052822.1:c.23C>G, NP_004857.4:p.Pro8Arg, XP_011542029.1:p.Pro8Arg, NP_001277158.1:p.Pro8Arg

Select item 148271034716.

rs1482710347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:78361479 (GRCh38)
5:77657303 (GRCh37)
Canonical SPDI:: NC_000005.10:78361478:G:A
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.78361479G>A, NC_000005.9:g.77657303G>A

Select item 148265881417.

rs1482658814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:78360024 (GRCh38)
5:77655848 (GRCh37)
Canonical SPDI:: NC_000005.10:78360023:C:T
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.78360024C>T, NC_000005.9:g.77655848C>T

Select item 148251713418.

rs1482517134 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:78361324 (GRCh38)
5:77657148 (GRCh37)
Canonical SPDI:: NC_000005.10:78361323:T:C
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000005.10:g.78361324T>C, NC_000005.9:g.77657148T>C

Select item 148220081319.

rs1482200813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:78361229 (GRCh38)
5:77657053 (GRCh37)
Canonical SPDI:: NC_000005.10:78361228:C:A
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.78361229C>A, NC_000005.9:g.77657053C>A

Select item 148166922220.

rs1481669222 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:78360549 (GRCh38)
5:77656373 (GRCh37)
Canonical SPDI:: NC_000005.10:78360548:T:G
Gene:: SCAMP1 (Varview), SCAMP1-AS1 (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)
G=0.000007/1 (GnomAD)
G=0.001129/2 (Korea1K)
HGVS:: NC_000005.10:g.78360549T>G, NC_000005.9:g.77656373T>G, NM_004866.5:c.-123T>G, NM_004866.4:c.-123T>G, NM_052822.2:c.-123T>G, NM_001290229.1:c.-123T>G, NR_110885.1:n.47T>G