SNP Links for Gene (Select 728264) - SNP

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Select item 14914407081.

rs1491440708 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:149414082 (GRCh38)
5:148793646 (GRCh37)
Canonical SPDI:: NC_000005.10:149414082::T
Gene:: CARMN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.149414082_149414083insT, NC_000005.9:g.148793645_148793646insT

Select item 14914033792.

rs1491403379 has merged into rs200288523 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 5:149426912 (GRCh38)
5:148806475 (GRCh37)
Canonical SPDI:: NC_000005.10:149426899:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:149426899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:149426899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:149426899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:149426899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:149426899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:149426899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: CARMN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0.0003/3 (ALFA)
-=0.3275/1640 (1000Genomes)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000005.10:g.149426912_149426914del, NC_000005.10:g.149426913_149426914del, NC_000005.10:g.149426914del, NC_000005.10:g.149426914dup, NC_000005.10:g.149426913_149426914dup, NC_000005.10:g.149426912_149426914dup, NC_000005.10:g.149426910_149426914dup, NC_000005.9:g.148806475_148806477del, NC_000005.9:g.148806476_148806477del, NC_000005.9:g.148806477del, NC_000005.9:g.148806477dup, NC_000005.9:g.148806476_148806477dup, NC_000005.9:g.148806475_148806477dup, NC_000005.9:g.148806473_148806477dup, NR_027180.1:n.3146_3148del, NR_027180.1:n.3147_3148del, NR_027180.1:n.3148del, NR_027180.1:n.3148dup, NR_027180.1:n.3147_3148dup, NR_027180.1:n.3146_3148dup, NR_027180.1:n.3144_3148dup

Select item 14913653583.

rs1491365358 has merged into rs796672538 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTG>CGGGC,G [Show Flanks]
Chromosome:: 5:149424417 (GRCh38)
5:148803980 (GRCh37)
Canonical SPDI:: NC_000005.10:149424416:GTG:CGGGC,NC_000005.10:149424416:GTG:G
Gene:: CARMN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000017/2 (GnomAD)
HGVS:: NC_000005.10:g.149424417_149424419delinsCGGGC, NC_000005.10:g.149424418_149424419del, NC_000005.9:g.148803980_148803982delinsCGGGC, NC_000005.9:g.148803981_148803982del, NG_053819.1:g.2388_2390delinsCGGGC, NG_053819.1:g.2389_2390del, NR_027180.1:n.651_653delinsCGGGC, NR_027180.1:n.652_653del

Select item 14909947664.

rs1490994766 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:149409932 (GRCh38)
5:148789496 (GRCh37)
Canonical SPDI:: NC_000005.10:149409932:T:TT
Gene:: CARMN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.149409933dup, NC_000005.9:g.148789496dup

Select item 14907610995.

rs1490761099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:149416117 (GRCh38)
5:148795680 (GRCh37)
Canonical SPDI:: NC_000005.10:149416116:A:T
Gene:: CARMN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.149416117A>T, NC_000005.9:g.148795680A>T

Select item 14907540576.

rs1490754057 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 5:149430824 (GRCh38)
5:148810387 (GRCh37)
Canonical SPDI:: NC_000005.10:149430823:G:
Gene:: MIR145 (Varview), CARMN (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.149430824del, NC_000005.9:g.148810387del, NR_027180.1:n.7058del

Select item 14907085057.

rs1490708505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:149415060 (GRCh38)
5:148794623 (GRCh37)
Canonical SPDI:: NC_000005.10:149415059:G:A
Gene:: CARMN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.149415060G>A, NC_000005.9:g.148794623G>A

Select item 14905940818.

rs1490594081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149431964 (GRCh38)
5:148811527 (GRCh37)
Canonical SPDI:: NC_000005.10:149431963:C:T
Gene:: CARMN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.149431964C>T, NC_000005.9:g.148811527C>T, NR_027180.1:n.8198C>T

Select item 14903191459.

rs1490319145 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:149427985 (GRCh38)
5:148807548 (GRCh37)
Canonical SPDI:: NC_000005.10:149427982:CTCT:CT
Gene:: MIR143 (Varview), CARMN (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000169/2 (ALFA)
-=0.000102/14 (GnomAD)
HGVS:: NC_000005.10:g.149427983CT[1], NC_000005.9:g.148807546CT[1], NR_027180.1:n.4217CT[1]

Select item 149021957310.

rs1490219573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:149414552 (GRCh38)
5:148794115 (GRCh37)
Canonical SPDI:: NC_000005.10:149414551:T:C
Gene:: CARMN (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_000005.10:g.149414552T>C, NC_000005.9:g.148794115T>C

Select item 148987104711.

rs1489871047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:149423211 (GRCh38)
5:148802774 (GRCh37)
Canonical SPDI:: NC_000005.10:149423210:G:C
Gene:: CARMN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.149423211G>C, NC_000005.9:g.148802774G>C, NG_053819.1:g.1182G>C

Select item 148985513712.

rs1489855137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:149422400 (GRCh38)
5:148801963 (GRCh37)
Canonical SPDI:: NC_000005.10:149422399:T:A,NC_000005.10:149422399:T:C
Gene:: CARMN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.149422400T>A, NC_000005.10:g.149422400T>C, NC_000005.9:g.148801963T>A, NC_000005.9:g.148801963T>C, NG_053819.1:g.371T>A, NG_053819.1:g.371T>C

Select item 148983304613.

rs1489833046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:149408538 (GRCh38)
5:148788101 (GRCh37)
Canonical SPDI:: NC_000005.10:149408537:G:A
Gene:: CARMN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.149408538G>A, NC_000005.9:g.148788101G>A

Select item 148966128614.

rs1489661286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:149413751 (GRCh38)
5:148793314 (GRCh37)
Canonical SPDI:: NC_000005.10:149413750:C:A,NC_000005.10:149413750:C:G
Gene:: CARMN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.149413751C>A, NC_000005.10:g.149413751C>G, NC_000005.9:g.148793314C>A, NC_000005.9:g.148793314C>G

Select item 148964909315.

rs1489649093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149410657 (GRCh38)
5:148790220 (GRCh37)
Canonical SPDI:: NC_000005.10:149410656:C:T
Gene:: CARMN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.149410657C>T, NC_000005.9:g.148790220C>T

Select item 148957145116.

rs1489571451 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:149406983 (GRCh38)
5:148786546 (GRCh37)
Canonical SPDI:: NC_000005.10:149406982:A:G
Gene:: CARMN (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.149406983A>G, NC_000005.9:g.148786546A>G, NR_027180.1:n.107A>G, NR_105059.1:n.139A>G, NR_105060.1:n.139A>G

Select item 148929705617.

rs1489297056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:149422509 (GRCh38)
5:148802072 (GRCh37)
Canonical SPDI:: NC_000005.10:149422508:G:A
Gene:: CARMN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.149422509G>A, NC_000005.9:g.148802072G>A, NG_053819.1:g.480G>A

Select item 148926590018.

rs1489265900 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:149421507 (GRCh38)
5:148801070 (GRCh37)
Canonical SPDI:: NC_000005.10:149421506:CCCC:CCC
Gene:: CARMN (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.149421510del, NC_000005.9:g.148801073del, NR_027180.1:n.232del, NR_105059.1:n.328del, NR_105060.1:n.264del

Select item 148921953819.

rs1489219538 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 5:149407583 (GRCh38)
5:148787146 (GRCh37)
Canonical SPDI:: NC_000005.10:149407582:A:
Gene:: CARMN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000221/31 (GnomAD)
-=0.000312/2 (1000Genomes)
-=0.000434/115 (TOPMED)
HGVS:: NC_000005.10:g.149407583del, NC_000005.9:g.148787146del

Select item 148920991720.

rs1489209917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:149427941 (GRCh38)
5:148807504 (GRCh37)
Canonical SPDI:: NC_000005.10:149427940:G:A,NC_000005.10:149427940:G:C,NC_000005.10:149427940:G:T
Gene:: MIR143 (Varview), CARMN (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.149427941G>A, NC_000005.10:g.149427941G>C, NC_000005.10:g.149427941G>T, NC_000005.9:g.148807504G>A, NC_000005.9:g.148807504G>C, NC_000005.9:g.148807504G>T, NR_027180.1:n.4175G>A, NR_027180.1:n.4175G>C, NR_027180.1:n.4175G>T

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