SNP Links for Gene (Select 64581) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14914912311.

rs1491491231 has merged into rs372400404 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:10123775 (GRCh38)
12:10276374 (GRCh37)
Canonical SPDI:: NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10123767:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.4133/2070 (1000Genomes)
HGVS:: NC_000012.12:g.10123775_10123781del, NC_000012.12:g.10123776_10123781del, NC_000012.12:g.10123777_10123781del, NC_000012.12:g.10123778_10123781del, NC_000012.12:g.10123779_10123781del, NC_000012.12:g.10123780_10123781del, NC_000012.12:g.10123781del, NC_000012.12:g.10123781dup, NC_000012.12:g.10123779_10123781dup, NC_000012.12:g.10123778_10123781dup, NC_000012.12:g.10123777_10123781dup, NC_000012.12:g.10123776_10123781dup, NC_000012.12:g.10123775_10123781dup, NC_000012.12:g.10123774_10123781dup, NC_000012.12:g.10123773_10123781dup, NC_000012.12:g.10123772_10123781dup, NC_000012.12:g.10123771_10123781dup, NC_000012.12:g.10123770_10123781dup, NC_000012.12:g.10123769_10123781dup, NC_000012.12:g.10123768_10123781dup, NC_000012.12:g.10123781_10123782insAAAAAAAAAAAAAAA, NC_000012.12:g.10123781_10123782insAAAAAAAAAAAAAAAA, NC_000012.12:g.10123781_10123782insAAAAAAAAAAAAAAAAA, NC_000012.12:g.10123781_10123782insAAAAAAAAAAAAAAAAAA, NC_000012.12:g.10123781_10123782insAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.10123781_10123782insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.10276374_10276380del, NC_000012.11:g.10276375_10276380del, NC_000012.11:g.10276376_10276380del, NC_000012.11:g.10276377_10276380del, NC_000012.11:g.10276378_10276380del, NC_000012.11:g.10276379_10276380del, NC_000012.11:g.10276380del, NC_000012.11:g.10276380dup, NC_000012.11:g.10276378_10276380dup, NC_000012.11:g.10276377_10276380dup, NC_000012.11:g.10276376_10276380dup, NC_000012.11:g.10276375_10276380dup, NC_000012.11:g.10276374_10276380dup, NC_000012.11:g.10276373_10276380dup, NC_000012.11:g.10276372_10276380dup, NC_000012.11:g.10276371_10276380dup, NC_000012.11:g.10276370_10276380dup, NC_000012.11:g.10276369_10276380dup, NC_000012.11:g.10276368_10276380dup, NC_000012.11:g.10276367_10276380dup, NC_000012.11:g.10276380_10276381insAAAAAAAAAAAAAAA, NC_000012.11:g.10276380_10276381insAAAAAAAAAAAAAAAA, NC_000012.11:g.10276380_10276381insAAAAAAAAAAAAAAAAA, NC_000012.11:g.10276380_10276381insAAAAAAAAAAAAAAAAAA, NC_000012.11:g.10276380_10276381insAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.10276380_10276381insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016291.1:g.11496_11502del, NG_016291.1:g.11497_11502del, NG_016291.1:g.11498_11502del, NG_016291.1:g.11499_11502del, NG_016291.1:g.11500_11502del, NG_016291.1:g.11501_11502del, NG_016291.1:g.11502del, NG_016291.1:g.11502dup, NG_016291.1:g.11500_11502dup, NG_016291.1:g.11499_11502dup, NG_016291.1:g.11498_11502dup, NG_016291.1:g.11497_11502dup, NG_016291.1:g.11496_11502dup, NG_016291.1:g.11495_11502dup, NG_016291.1:g.11494_11502dup, NG_016291.1:g.11493_11502dup, NG_016291.1:g.11492_11502dup, NG_016291.1:g.11491_11502dup, NG_016291.1:g.11490_11502dup, NG_016291.1:g.11489_11502dup, NG_016291.1:g.11502_11503insTTTTTTTTTTTTTTT, NG_016291.1:g.11502_11503insTTTTTTTTTTTTTTTT, NG_016291.1:g.11502_11503insTTTTTTTTTTTTTTTTT, NG_016291.1:g.11502_11503insTTTTTTTTTTTTTTTTTT, NG_016291.1:g.11502_11503insTTTTTTTTTTTTTTTTTTTTTT, NG_016291.1:g.11502_11503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913681272.

rs1491368127 has merged into rs58931462 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC,ACACAC [Show Flanks]
Chromosome:: 12:10122197 (GRCh38)
12:10274796 (GRCh37)
Canonical SPDI:: NC_000012.12:10122187:CACACACACAC:CACACACAC,NC_000012.12:10122187:CACACACACAC:CACACACACACAC,NC_000012.12:10122187:CACACACACAC:CACACACACACACAC
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACAC=0./0 (ALFA)
CA=0.025/1 (GENOME_DK)
CA=0.06741/302 (Estonian)
CA=0.09167/55 (NorthernSweden)
CA=0.10822/108 (GoNL)
CA=0.11792/25 (Vietnamese)
CA=0.11954/219 (Korea1K)
CA=0.13738/2302 (TOMMO)
CA=0.15615/782 (1000Genomes)
HGVS:: NC_000012.12:g.10122189AC[4], NC_000012.12:g.10122189AC[6], NC_000012.12:g.10122189AC[7], NC_000012.11:g.10274788AC[4], NC_000012.11:g.10274788AC[6], NC_000012.11:g.10274788AC[7], NG_016291.1:g.13073TG[4], NG_016291.1:g.13073TG[6], NG_016291.1:g.13073TG[7]

Select item 14907250313.

rs1490725031 has merged into rs5796381 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATTTTTTAAAAAAGGGAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:10126922 (GRCh38)
12:10279521 (GRCh37)
Canonical SPDI:: NC_000012.12:10126914:AAAAAAAAAAAAA:AAAAAAA,NC_000012.12:10126914:AAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:10126914:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:10126914:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:10126914:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:10126914:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:10126914:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:10126914:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:10126914:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTTAAAAAAGGGAAAAAAAAAAAAAAAAAA
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
A=0.4205/2106 (1000Genomes)
HGVS:: NC_000012.12:g.10126922_10126927del, NC_000012.12:g.10126923_10126927del, NC_000012.12:g.10126925_10126927del, NC_000012.12:g.10126926_10126927del, NC_000012.12:g.10126927del, NC_000012.12:g.10126927dup, NC_000012.12:g.10126926_10126927dup, NC_000012.12:g.10126924_10126927dup, NC_000012.12:g.10126915_10126927A[28]T[6]A[6]GGGAAAAAAAAAAAAAAAAAA[1], NC_000012.11:g.10279521_10279526del, NC_000012.11:g.10279522_10279526del, NC_000012.11:g.10279524_10279526del, NC_000012.11:g.10279525_10279526del, NC_000012.11:g.10279526del, NC_000012.11:g.10279526dup, NC_000012.11:g.10279525_10279526dup, NC_000012.11:g.10279523_10279526dup, NC_000012.11:g.10279514_10279526A[28]T[6]A[6]GGGAAAAAAAAAAAAAAAAAA[1], NG_016291.1:g.8350_8355del, NG_016291.1:g.8351_8355del, NG_016291.1:g.8353_8355del, NG_016291.1:g.8354_8355del, NG_016291.1:g.8355del, NG_016291.1:g.8355dup, NG_016291.1:g.8354_8355dup, NG_016291.1:g.8352_8355dup, NG_016291.1:g.8343_8355T[18]CCCTTTTTTAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14907011844.

rs1490701184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10120269 (GRCh38)
12:10272868 (GRCh37)
Canonical SPDI:: NC_000012.12:10120268:T:C
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.10120269T>C, NC_000012.11:g.10272868T>C, NG_016291.1:g.15001A>G

Select item 14904213365.

rs1490421336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10128221 (GRCh38)
12:10280820 (GRCh37)
Canonical SPDI:: NC_000012.12:10128220:C:T
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.10128221C>T, NC_000012.11:g.10280820C>T, NG_016291.1:g.7049G>A

Select item 14904190786.

rs1490419078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10127689 (GRCh38)
12:10280288 (GRCh37)
Canonical SPDI:: NC_000012.12:10127688:G:A
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.10127689G>A, NC_000012.11:g.10280288G>A, NG_016291.1:g.7581C>T

Select item 14902813207.

rs1490281320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10121477 (GRCh38)
12:10274076 (GRCh37)
Canonical SPDI:: NC_000012.12:10121476:G:A
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.10121477G>A, NC_000012.11:g.10274076G>A, NG_016291.1:g.13793C>T

Select item 14897880548.

rs1489788054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10121924 (GRCh38)
12:10274523 (GRCh37)
Canonical SPDI:: NC_000012.12:10121923:C:T
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.10121924C>T, NC_000012.11:g.10274523C>T, NG_016291.1:g.13346G>A

Select item 14896445049.

rs1489644504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10117097 (GRCh38)
12:10269696 (GRCh37)
Canonical SPDI:: NC_000012.12:10117096:C:T
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.10117097C>T, NC_000012.11:g.10269696C>T, NG_016291.1:g.18173G>A, NM_022570.5:c.*1361G>A, NM_022570.4:c.*1361G>A, NM_197947.3:c.*1361G>A, NM_197947.2:c.*1361G>A, NM_197948.3:c.*1416G>A, NM_197948.2:c.*1416G>A, NM_197950.3:c.*1361G>A, NM_197950.2:c.*1361G>A, NM_197949.3:c.*1416G>A, NM_197949.2:c.*1416G>A, NR_125336.2:n.2309G>A, NR_125336.1:n.2379G>A, XM_006719135.4:c.*1494G>A, NM_197953.1:c.*1890G>A, NM_197952.1:c.*1568G>A, XM_047429359.1:c.*1361G>A, NM_197951.1:c.*1577G>A

Select item 148947178610.

rs1489471786 [Homo sapiens]

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

Select item 148946262311.

rs1489462623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:10121122 (GRCh38)
12:10273721 (GRCh37)
Canonical SPDI:: NC_000012.12:10121121:T:G
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000012.12:g.10121122T>G, NC_000012.11:g.10273721T>G, NG_016291.1:g.14148A>C

Select item 148938952212.

rs1489389522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10116713 (GRCh38)
12:10269312 (GRCh37)
Canonical SPDI:: NC_000012.12:10116712:T:C
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000012.12:g.10116713T>C, NC_000012.11:g.10269312T>C, NG_016291.1:g.18557A>G

Select item 148931356913.

rs1489313569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:10131897 (GRCh38)
12:10284496 (GRCh37)
Canonical SPDI:: NC_000012.12:10131896:C:G
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.10131897C>G, NC_000012.11:g.10284496C>G, NG_016291.1:g.3373G>C

Select item 148928890114.

rs1489288901 has merged into rs138543476 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:10117540 (GRCh38)
12:10270139 (GRCh37)
Canonical SPDI:: NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:10117530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.00003/8 (TOPMED)
HGVS:: NC_000012.12:g.10117540_10117551del, NC_000012.12:g.10117542_10117551del, NC_000012.12:g.10117545_10117551del, NC_000012.12:g.10117547_10117551del, NC_000012.12:g.10117548_10117551del, NC_000012.12:g.10117549_10117551del, NC_000012.12:g.10117550_10117551del, NC_000012.12:g.10117551del, NC_000012.12:g.10117551dup, NC_000012.12:g.10117550_10117551dup, NC_000012.12:g.10117549_10117551dup, NC_000012.12:g.10117548_10117551dup, NC_000012.12:g.10117547_10117551dup, NC_000012.12:g.10117546_10117551dup, NC_000012.12:g.10117545_10117551dup, NC_000012.12:g.10117544_10117551dup, NC_000012.12:g.10117543_10117551dup, NC_000012.12:g.10117541_10117551dup, NC_000012.12:g.10117540_10117551dup, NC_000012.12:g.10117539_10117551dup, NC_000012.12:g.10117551_10117552insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.10270139_10270150del, NC_000012.11:g.10270141_10270150del, NC_000012.11:g.10270144_10270150del, NC_000012.11:g.10270146_10270150del, NC_000012.11:g.10270147_10270150del, NC_000012.11:g.10270148_10270150del, NC_000012.11:g.10270149_10270150del, NC_000012.11:g.10270150del, NC_000012.11:g.10270150dup, NC_000012.11:g.10270149_10270150dup, NC_000012.11:g.10270148_10270150dup, NC_000012.11:g.10270147_10270150dup, NC_000012.11:g.10270146_10270150dup, NC_000012.11:g.10270145_10270150dup, NC_000012.11:g.10270144_10270150dup, NC_000012.11:g.10270143_10270150dup, NC_000012.11:g.10270142_10270150dup, NC_000012.11:g.10270140_10270150dup, NC_000012.11:g.10270139_10270150dup, NC_000012.11:g.10270138_10270150dup, NC_000012.11:g.10270150_10270151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016291.1:g.17728_17739del, NG_016291.1:g.17730_17739del, NG_016291.1:g.17733_17739del, NG_016291.1:g.17735_17739del, NG_016291.1:g.17736_17739del, NG_016291.1:g.17737_17739del, NG_016291.1:g.17738_17739del, NG_016291.1:g.17739del, NG_016291.1:g.17739dup, NG_016291.1:g.17738_17739dup, NG_016291.1:g.17737_17739dup, NG_016291.1:g.17736_17739dup, NG_016291.1:g.17735_17739dup, NG_016291.1:g.17734_17739dup, NG_016291.1:g.17733_17739dup, NG_016291.1:g.17732_17739dup, NG_016291.1:g.17731_17739dup, NG_016291.1:g.17729_17739dup, NG_016291.1:g.17728_17739dup, NG_016291.1:g.17727_17739dup, NG_016291.1:g.17739_17740insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_022570.5:c.*916_*927del, NM_022570.5:c.*918_*927del, NM_022570.5:c.*921_*927del, NM_022570.5:c.*923_*927del, NM_022570.5:c.*924_*927del, NM_022570.5:c.*925_*927del, NM_022570.5:c.*926_*927del, NM_022570.5:c.*927del, NM_022570.5:c.*927dup, NM_022570.5:c.*926_*927dup, NM_022570.5:c.*925_*927dup, NM_022570.5:c.*924_*927dup, NM_022570.5:c.*923_*927dup, NM_022570.5:c.*922_*927dup, NM_022570.5:c.*921_*927dup, NM_022570.5:c.*920_*927dup, NM_022570.5:c.*919_*927dup, NM_022570.5:c.*917_*927dup, NM_022570.5:c.*916_*927dup, NM_022570.5:c.*915_*927dup, NM_022570.5:c.*927_*928insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_022570.4:c.*916_*927del, NM_022570.4:c.*918_*927del, NM_022570.4:c.*921_*927del, NM_022570.4:c.*923_*927del, NM_022570.4:c.*924_*927del, NM_022570.4:c.*925_*927del, NM_022570.4:c.*926_*927del, NM_022570.4:c.*927del, NM_022570.4:c.*927dup, NM_022570.4:c.*926_*927dup, NM_022570.4:c.*925_*927dup, NM_022570.4:c.*924_*927dup, NM_022570.4:c.*923_*927dup, NM_022570.4:c.*922_*927dup, NM_022570.4:c.*921_*927dup, NM_022570.4:c.*920_*927dup, NM_022570.4:c.*919_*927dup, NM_022570.4:c.*917_*927dup, NM_022570.4:c.*916_*927dup, NM_022570.4:c.*915_*927dup, NM_022570.4:c.*927_*928insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_197947.3:c.*916_*927del, NM_197947.3:c.*918_*927del, NM_197947.3:c.*921_*927del, NM_197947.3:c.*923_*927del, NM_197947.3:c.*924_*927del, NM_197947.3:c.*925_*927del, NM_197947.3:c.*926_*927del, NM_197947.3:c.*927del, NM_197947.3:c.*927dup, NM_197947.3:c.*926_*927dup, NM_197947.3:c.*925_*927dup, NM_197947.3:c.*924_*927dup, NM_197947.3:c.*923_*927dup, NM_197947.3:c.*922_*927dup, NM_197947.3:c.*921_*927dup, NM_197947.3:c.*920_*927dup, NM_197947.3:c.*919_*927dup, NM_197947.3:c.*917_*927dup, NM_197947.3:c.*916_*927dup, NM_197947.3:c.*915_*927dup, NM_197947.3:c.*927_*928insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_197947.2:c.*916_*927del, NM_197947.2:c.*918_*927del, NM_197947.2:c.*921_*927del, NM_197947.2:c.*923_*927del, NM_197947.2:c.*924_*927del, NM_197947.2:c.*925_*927del, NM_197947.2:c.*926_*927del, NM_197947.2:c.*927del, NM_197947.2:c.*927dup, NM_197947.2:c.*926_*927dup, NM_197947.2:c.*925_*927dup, NM_197947.2:c.*924_*927dup, NM_197947.2:c.*923_*927dup, NM_197947.2:c.*922_*927dup, NM_197947.2:c.*921_*927dup, NM_197947.2:c.*920_*927dup, NM_197947.2:c.*919_*927dup, NM_197947.2:c.*917_*927dup, NM_197947.2:c.*916_*927dup, NM_197947.2:c.*915_*927dup, NM_197947.2:c.*927_*928insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_197948.3:c.*971_*982del, NM_197948.3:c.*973_*982del, NM_197948.3:c.*976_*982del, NM_197948.3:c.*978_*982del, NM_197948.3:c.*979_*982del, NM_197948.3:c.*980_*982del, NM_197948.3:c.*981_*982del, NM_197948.3:c.*982del, NM_197948.3:c.*982dup, NM_197948.3:c.*981_*982dup, NM_197948.3:c.*980_*982dup, NM_197948.3:c.*979_*982dup, NM_197948.3:c.*978_*982dup, NM_197948.3:c.*977_*982dup, NM_197948.3:c.*976_*982dup, NM_197948.3:c.*975_*982dup, NM_197948.3:c.*974_*982dup, NM_197948.3:c.*972_*982dup, NM_197948.3:c.*971_*982dup, NM_197948.3:c.*970_*982dup, NM_197948.3:c.*982_*983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_197948.2:c.*971_*982del, NM_197948.2:c.*973_*982del, NM_197948.2:c.*976_*982del, NM_197948.2:c.*978_*982del, NM_197948.2:c.*979_*982del, NM_197948.2:c.*980_*982del, NM_197948.2:c.*981_*982del, NM_197948.2:c.*982del, NM_197948.2:c.*982dup, NM_197948.2:c.*981_*982dup, NM_197948.2:c.*980_*982dup, NM_197948.2:c.*979_*982dup, NM_197948.2:c.*978_*982dup, NM_197948.2:c.*977_*982dup, NM_197948.2:c.*976_*982dup, NM_197948.2:c.*975_*982dup, NM_197948.2:c.*974_*982dup, NM_197948.2:c.*972_*982dup, NM_197948.2:c.*971_*982dup, NM_197948.2:c.*970_*982dup, NM_197948.2:c.*982_*983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_197950.3:c.*916_*927del, NM_197950.3:c.*918_*927del, NM_197950.3:c.*921_*927del, NM_197950.3:c.*923_*927del, NM_197950.3:c.*924_*927del, NM_197950.3:c.*925_*927del, NM_197950.3:c.*926_*927del, NM_197950.3:c.*927del, NM_197950.3:c.*927dup, NM_197950.3:c.*926_*927dup, NM_197950.3:c.*925_*927dup, NM_197950.3:c.*924_*927dup, NM_197950.3:c.*923_*927dup, NM_197950.3:c.*922_*927dup, NM_197950.3:c.*921_*927dup, NM_197950.3:c.*920_*927dup, NM_197950.3:c.*919_*927dup, NM_197950.3:c.*917_*927dup, NM_197950.3:c.*916_*927dup, NM_197950.3:c.*915_*927dup, NM_197950.3:c.*927_*928insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_197950.2:c.*916_*927del, NM_197950.2:c.*918_*927del, NM_197950.2:c.*921_*927del, NM_197950.2:c.*923_*927del, NM_197950.2:c.*924_*927del, NM_197950.2:c.*925_*927del, NM_197950.2:c.*926_*927del, NM_197950.2:c.*927del, NM_197950.2:c.*927dup, NM_197950.2:c.*926_*927dup, NM_197950.2:c.*925_*927dup, NM_197950.2:c.*924_*927dup, NM_197950.2:c.*923_*927dup, NM_197950.2:c.*922_*927dup, NM_197950.2:c.*921_*927dup, NM_197950.2:c.*920_*927dup, NM_197950.2:c.*919_*927dup, NM_197950.2:c.*917_*927dup, NM_197950.2:c.*916_*927dup, NM_197950.2:c.*915_*927dup, NM_197950.2:c.*927_*928insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_197949.3:c.*971_*982del, NM_197949.3:c.*973_*982del, NM_197949.3:c.*976_*982del, NM_197949.3:c.*978_*982del, NM_197949.3:c.*979_*982del, NM_197949.3:c.*980_*982del, NM_197949.3:c.*981_*982del, NM_197949.3:c.*982del, NM_197949.3:c.*982dup, NM_197949.3:c.*981_*982dup, NM_197949.3:c.*980_*982dup, NM_197949.3:c.*979_*982dup, NM_197949.3:c.*978_*982dup, NM_197949.3:c.*977_*982dup, NM_197949.3:c.*976_*982dup, NM_197949.3:c.*975_*982dup, NM_197949.3:c.*974_*982dup, NM_197949.3:c.*972_*982dup, NM_197949.3:c.*971_*982dup, NM_197949.3:c.*970_*982dup, NM_197949.3:c.*982_*983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_197949.2:c.*971_*982del, NM_197949.2:c.*973_*982del, NM_197949.2:c.*976_*982del, NM_197949.2:c.*978_*982del, NM_197949.2:c.*979_*982del, NM_197949.2:c.*980_*982del, NM_197949.2:c.*981_*982del, NM_197949.2:c.*982del, NM_197949.2:c.*982dup, NM_197949.2:c.*981_*982dup, NM_197949.2:c.*980_*982dup, NM_197949.2:c.*979_*982dup, NM_197949.2:c.*978_*982dup, NM_197949.2:c.*977_*982dup, NM_197949.2:c.*976_*982dup, NM_197949.2:c.*975_*982dup, NM_197949.2:c.*974_*982dup, NM_197949.2:c.*972_*982dup, NM_197949.2:c.*971_*982dup, NM_197949.2:c.*970_*982dup, NM_197949.2:c.*982_*983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_125336.2:n.1864_1875del, NR_125336.2:n.1866_1875del, NR_125336.2:n.1869_1875del, NR_125336.2:n.1871_1875del, NR_125336.2:n.1872_1875del, NR_125336.2:n.1873_1875del, NR_125336.2:n.1874_1875del, NR_125336.2:n.1875del, NR_125336.2:n.1875dup, NR_125336.2:n.1874_1875dup, NR_125336.2:n.1873_1875dup, NR_125336.2:n.1872_1875dup, NR_125336.2:n.1871_1875dup, NR_125336.2:n.1870_1875dup, NR_125336.2:n.1869_1875dup, NR_125336.2:n.1868_1875dup, NR_125336.2:n.1867_1875dup, NR_125336.2:n.1865_1875dup, NR_125336.2:n.1864_1875dup, NR_125336.2:n.1863_1875dup, NR_125336.2:n.1875_1876insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_125336.1:n.1934_1945del, NR_125336.1:n.1936_1945del, NR_125336.1:n.1939_1945del, NR_125336.1:n.1941_1945del, NR_125336.1:n.1942_1945del, NR_125336.1:n.1943_1945del, NR_125336.1:n.1944_1945del, NR_125336.1:n.1945del, NR_125336.1:n.1945dup, NR_125336.1:n.1944_1945dup, NR_125336.1:n.1943_1945dup, NR_125336.1:n.1942_1945dup, NR_125336.1:n.1941_1945dup, NR_125336.1:n.1940_1945dup, NR_125336.1:n.1939_1945dup, NR_125336.1:n.1938_1945dup, NR_125336.1:n.1937_1945dup, NR_125336.1:n.1935_1945dup, NR_125336.1:n.1934_1945dup, NR_125336.1:n.1933_1945dup, NR_125336.1:n.1945_1946insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_006719135.4:c.*1049_*1060del, XM_006719135.4:c.*1051_*1060del, XM_006719135.4:c.*1054_*1060del, XM_006719135.4:c.*1056_*1060del, XM_006719135.4:c.*1057_*1060del, XM_006719135.4:c.*1058_*1060del, XM_006719135.4:c.*1059_*1060del, XM_006719135.4:c.*1060del, XM_006719135.4:c.*1060dup, XM_006719135.4:c.*1059_*1060dup, XM_006719135.4:c.*1058_*1060dup, XM_006719135.4:c.*1057_*1060dup, XM_006719135.4:c.*1056_*1060dup, XM_006719135.4:c.*1055_*1060dup, XM_006719135.4:c.*1054_*1060dup, XM_006719135.4:c.*1053_*1060dup, XM_006719135.4:c.*1052_*1060dup, XM_006719135.4:c.*1050_*1060dup, XM_006719135.4:c.*1049_*1060dup, XM_006719135.4:c.*1048_*1060dup, XM_006719135.4:c.*1060_*1061insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_197953.1:c.*1456dup, NM_197953.1:c.*1446_*1456del, NM_197953.1:c.*1448_*1456del, NM_197953.1:c.*1451_*1456del, NM_197953.1:c.*1453_*1456del, NM_197953.1:c.*1454_*1456del, NM_197953.1:c.*1455_*1456del, NM_197953.1:c.*1456del, NM_197953.1:c.*1455_*1456dup, NM_197953.1:c.*1454_*1456dup, NM_197953.1:c.*1453_*1456dup, NM_197953.1:c.*1452_*1456dup, NM_197953.1:c.*1451_*1456dup, NM_197953.1:c.*1450_*1456dup, NM_197953.1:c.*1449_*1456dup, NM_197953.1:c.*1448_*1456dup, NM_197953.1:c.*1447_*1456dup, NM_197953.1:c.*1445_*1456dup, NM_197953.1:c.*1444_*1456dup, NM_197953.1:c.*1443_*1456dup, NM_197953.1:c.*1456_*1457insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_197952.1:c.*1134dup, NM_197952.1:c.*1124_*1134del, NM_197952.1:c.*1126_*1134del, NM_197952.1:c.*1129_*1134del, NM_197952.1:c.*1131_*1134del, NM_197952.1:c.*1132_*1134del, NM_197952.1:c.*1133_*1134del, NM_197952.1:c.*1134del, NM_197952.1:c.*1133_*1134dup, NM_197952.1:c.*1132_*1134dup, NM_197952.1:c.*1131_*1134dup, NM_197952.1:c.*1130_*1134dup, NM_197952.1:c.*1129_*1134dup, NM_197952.1:c.*1128_*1134dup, NM_197952.1:c.*1127_*1134dup, NM_197952.1:c.*1126_*1134dup, NM_197952.1:c.*1125_*1134dup, NM_197952.1:c.*1123_*1134dup, NM_197952.1:c.*1122_*1134dup, NM_197952.1:c.*1121_*1134dup, NM_197952.1:c.*1134_*1135insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047429359.1:c.*916_*927del, XM_047429359.1:c.*918_*927del, XM_047429359.1:c.*921_*927del, XM_047429359.1:c.*923_*927del, XM_047429359.1:c.*924_*927del, XM_047429359.1:c.*925_*927del, XM_047429359.1:c.*926_*927del, XM_047429359.1:c.*927del, XM_047429359.1:c.*927dup, XM_047429359.1:c.*926_*927dup, XM_047429359.1:c.*925_*927dup, XM_047429359.1:c.*924_*927dup, XM_047429359.1:c.*923_*927dup, XM_047429359.1:c.*922_*927dup, XM_047429359.1:c.*921_*927dup, XM_047429359.1:c.*920_*927dup, XM_047429359.1:c.*919_*927dup, XM_047429359.1:c.*917_*927dup, XM_047429359.1:c.*916_*927dup, XM_047429359.1:c.*915_*927dup, XM_047429359.1:c.*927_*928insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_197951.1:c.*1143dup, NM_197951.1:c.*1133_*1143del, NM_197951.1:c.*1135_*1143del, NM_197951.1:c.*1138_*1143del, NM_197951.1:c.*1140_*1143del, NM_197951.1:c.*1141_*1143del, NM_197951.1:c.*1142_*1143del, NM_197951.1:c.*1143del, NM_197951.1:c.*1142_*1143dup, NM_197951.1:c.*1141_*1143dup, NM_197951.1:c.*1140_*1143dup, NM_197951.1:c.*1139_*1143dup, NM_197951.1:c.*1138_*1143dup, NM_197951.1:c.*1137_*1143dup, NM_197951.1:c.*1136_*1143dup, NM_197951.1:c.*1135_*1143dup, NM_197951.1:c.*1134_*1143dup, NM_197951.1:c.*1132_*1143dup, NM_197951.1:c.*1131_*1143dup, NM_197951.1:c.*1130_*1143dup, NM_197951.1:c.*1143_*1144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148926290115.

rs1489262901 has merged into rs995429459 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 12:10121332 (GRCh38)
12:10273931 (GRCh37)
Canonical SPDI:: NC_000012.12:10121331:GGGG:GGG,NC_000012.12:10121331:GGGG:GGGGG
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
HGVS:: NC_000012.12:g.10121335del, NC_000012.12:g.10121335dup, NC_000012.11:g.10273934del, NC_000012.11:g.10273934dup, NG_016291.1:g.13938del, NG_016291.1:g.13938dup

Select item 148916213016.

rs1489162130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:10123351 (GRCh38)
12:10275950 (GRCh37)
Canonical SPDI:: NC_000012.12:10123350:T:G
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10123351T>G, NC_000012.11:g.10275950T>G, NG_016291.1:g.11919A>C, NM_022570.5:c.367A>C, NM_022570.4:c.367A>C, NM_197947.3:c.505A>C, NM_197947.2:c.505A>C, NM_197950.3:c.268A>C, NM_197950.2:c.268A>C, NR_125336.2:n.709A>C, NR_125336.1:n.779A>C, XM_024449132.2:c.*3A>C, XM_024449132.1:c.*3A>C, XM_024449133.2:c.*13A>C, XM_024449133.1:c.*13A>C, NM_197953.1:c.*291A>C, NM_197952.1:c.*13A>C, XM_047429359.1:c.505A>C, NM_197951.1:c.116A>C, XM_047429360.1:c.*3A>C, NP_072092.2:p.Lys123Gln, NP_922938.1:p.Lys169Gln, NP_922941.1:p.Lys90Gln, XP_047285315.1:p.Lys169Gln

Select item 148913105317.

rs1489131053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10126664 (GRCh38)
12:10279263 (GRCh37)
Canonical SPDI:: NC_000012.12:10126663:A:G
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000012.12:g.10126664A>G, NC_000012.11:g.10279263A>G, NG_016291.1:g.8606T>C, NM_197947.3:c.247T>C, NM_197947.2:c.247T>C, NM_197948.3:c.247T>C, NM_197948.2:c.247T>C, NR_125336.2:n.364T>C, NR_125336.1:n.434T>C, XM_006719135.4:c.247T>C, XM_006719135.3:c.247T>C, XM_006719135.2:c.247T>C, XM_006719135.1:c.247T>C, XM_024449132.2:c.247T>C, XM_024449132.1:c.247T>C, NM_197953.1:c.297T>C, NM_197952.1:c.247T>C, XM_047429359.1:c.247T>C, NP_922938.1:p.Tyr83His, NP_922939.1:p.Tyr83His, XP_006719198.1:p.Tyr83His, XP_024304900.1:p.Tyr83His, XP_047285315.1:p.Tyr83His

Select item 148878370318.

rs1488783703 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10129412 (GRCh38)
12:10282011 (GRCh37)
Canonical SPDI:: NC_000012.12:10129411:A:G
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: 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_000012.12:g.10129412A>G, NC_000012.11:g.10282011A>G, NG_016291.1:g.5858T>C

Select item 148856437619.

rs1488564376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10119175 (GRCh38)
12:10271774 (GRCh37)
Canonical SPDI:: NC_000012.12:10119174:T:C
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000012.12:g.10119175T>C, NC_000012.11:g.10271774T>C, NG_016291.1:g.16095A>G

Select item 148831876220.

rs1488318762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10117840 (GRCh38)
12:10270439 (GRCh37)
Canonical SPDI:: NC_000012.12:10117839:T:C
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_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_000012.12:g.10117840T>C, NC_000012.11:g.10270439T>C, NG_016291.1:g.17430A>G, NM_022570.5:c.*618A>G, NM_022570.4:c.*618A>G, NM_197947.3:c.*618A>G, NM_197947.2:c.*618A>G, NM_197948.3:c.*673A>G, NM_197948.2:c.*673A>G, NM_197950.3:c.*618A>G, NM_197950.2:c.*618A>G, NM_197949.3:c.*673A>G, NM_197949.2:c.*673A>G, NR_125336.2:n.1566A>G, NR_125336.1:n.1636A>G, XM_006719135.4:c.*751A>G, NM_197953.1:c.*1148A>G, NM_197952.1:c.*826A>G, XM_047429359.1:c.*618A>G, NM_197951.1:c.*835A>G

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity