Links from Gene
Items: 1 to 20 of 4883
1.
rs1491524476 has merged into rs71436064 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA
[Show Flanks]
- Chromosome:
- 12:68450857
(GRCh38)
12:68844637
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACACACACACACACACACA
- Gene:
- LINC02384 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACA=0./0
(
ALFA)
CA=0.0566/12
(Vietnamese)
CA=0.07127/1195
(TOMMO)
CA=0.23203/1162
(1000Genomes)
CA=0.475/19
(GENOME_DK)
- HGVS:
NC_000012.12:g.68450843CA[7], NC_000012.12:g.68450843CA[8], NC_000012.12:g.68450843CA[10], NC_000012.12:g.68450843CA[11], NC_000012.12:g.68450843CA[12], NC_000012.12:g.68450843CA[13], NC_000012.12:g.68450843CA[14], NC_000012.12:g.68450843CA[15], NC_000012.12:g.68450843CA[16], NC_000012.11:g.68844623CA[7], NC_000012.11:g.68844623CA[8], NC_000012.11:g.68844623CA[10], NC_000012.11:g.68844623CA[11], NC_000012.11:g.68844623CA[12], NC_000012.11:g.68844623CA[13], NC_000012.11:g.68844623CA[14], NC_000012.11:g.68844623CA[15], NC_000012.11:g.68844623CA[16]
3.
rs1491311028 has merged into rs3046188 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 12:68450288
(GRCh38)
12:68844068
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- LINC02384 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.68450278AT[5], NC_000012.12:g.68450278AT[6], NC_000012.12:g.68450278AT[7], NC_000012.12:g.68450278AT[8], NC_000012.12:g.68450278AT[9], NC_000012.12:g.68450278AT[10], NC_000012.12:g.68450278AT[11], NC_000012.12:g.68450278AT[12], NC_000012.12:g.68450278AT[13], NC_000012.12:g.68450278AT[14], NC_000012.12:g.68450278AT[15], NC_000012.12:g.68450278AT[16], NC_000012.12:g.68450278AT[17], NC_000012.12:g.68450278AT[18], NC_000012.12:g.68450278AT[19], NC_000012.12:g.68450278AT[21], NC_000012.12:g.68450278AT[22], NC_000012.12:g.68450278AT[23], NC_000012.12:g.68450278AT[24], NC_000012.12:g.68450278AT[25], NC_000012.12:g.68450278AT[26], NC_000012.12:g.68450278AT[27], NC_000012.12:g.68450278AT[28], NC_000012.11:g.68844058AT[5], NC_000012.11:g.68844058AT[6], NC_000012.11:g.68844058AT[7], NC_000012.11:g.68844058AT[8], NC_000012.11:g.68844058AT[9], NC_000012.11:g.68844058AT[10], NC_000012.11:g.68844058AT[11], NC_000012.11:g.68844058AT[12], NC_000012.11:g.68844058AT[13], NC_000012.11:g.68844058AT[14], NC_000012.11:g.68844058AT[15], NC_000012.11:g.68844058AT[16], NC_000012.11:g.68844058AT[17], NC_000012.11:g.68844058AT[18], NC_000012.11:g.68844058AT[19], NC_000012.11:g.68844058AT[21], NC_000012.11:g.68844058AT[22], NC_000012.11:g.68844058AT[23], NC_000012.11:g.68844058AT[24], NC_000012.11:g.68844058AT[25], NC_000012.11:g.68844058AT[26], NC_000012.11:g.68844058AT[27], NC_000012.11:g.68844058AT[28]
4.
rs1491185304 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTAT
[Show Flanks]
- Chromosome:
- 12:68450278
(GRCh38)
12:68844059
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68450278:TAT:TATGTAT
- Gene:
- LINC02384 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATGTAT=0./0
(
ALFA)
TATG=0.0014/3
(GnomAD)
- HGVS:
5.
rs1491143406 has merged into rs3046193 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:68447162
(GRCh38)
12:68840942
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC02384 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.68447162_68447178del, NC_000012.12:g.68447164_68447178del, NC_000012.12:g.68447165_68447178del, NC_000012.12:g.68447166_68447178del, NC_000012.12:g.68447167_68447178del, NC_000012.12:g.68447168_68447178del, NC_000012.12:g.68447169_68447178del, NC_000012.12:g.68447170_68447178del, NC_000012.12:g.68447171_68447178del, NC_000012.12:g.68447172_68447178del, NC_000012.12:g.68447173_68447178del, NC_000012.12:g.68447174_68447178del, NC_000012.12:g.68447175_68447178del, NC_000012.12:g.68447176_68447178del, NC_000012.12:g.68447177_68447178del, NC_000012.12:g.68447178del, NC_000012.12:g.68447178dup, NC_000012.12:g.68447177_68447178dup, NC_000012.12:g.68447176_68447178dup, NC_000012.12:g.68447175_68447178dup, NC_000012.12:g.68447174_68447178dup, NC_000012.12:g.68447173_68447178dup, NC_000012.12:g.68447172_68447178dup, NC_000012.12:g.68447171_68447178dup, NC_000012.12:g.68447170_68447178dup, NC_000012.12:g.68447169_68447178dup, NC_000012.12:g.68447168_68447178dup, NC_000012.12:g.68447167_68447178dup, NC_000012.12:g.68447166_68447178dup, NC_000012.12:g.68447165_68447178dup, NC_000012.12:g.68447164_68447178dup, NC_000012.12:g.68447163_68447178dup, NC_000012.12:g.68447162_68447178dup, NC_000012.12:g.68447161_68447178dup, NC_000012.12:g.68447160_68447178dup, NC_000012.12:g.68447159_68447178dup, NC_000012.12:g.68447158_68447178dup, NC_000012.12:g.68447157_68447178dup, NC_000012.12:g.68447156_68447178dup, NC_000012.12:g.68447155_68447178dup, NC_000012.12:g.68447154_68447178dup, NC_000012.12:g.68447153_68447178dup, NC_000012.12:g.68447152_68447178dup, NC_000012.12:g.68447151_68447178dup, NC_000012.12:g.68447178_68447179insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.68447178_68447179insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.68447178_68447179insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.68447178_68447179insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.68840942_68840958del, NC_000012.11:g.68840944_68840958del, NC_000012.11:g.68840945_68840958del, NC_000012.11:g.68840946_68840958del, NC_000012.11:g.68840947_68840958del, NC_000012.11:g.68840948_68840958del, NC_000012.11:g.68840949_68840958del, NC_000012.11:g.68840950_68840958del, NC_000012.11:g.68840951_68840958del, NC_000012.11:g.68840952_68840958del, NC_000012.11:g.68840953_68840958del, NC_000012.11:g.68840954_68840958del, NC_000012.11:g.68840955_68840958del, NC_000012.11:g.68840956_68840958del, NC_000012.11:g.68840957_68840958del, NC_000012.11:g.68840958del, NC_000012.11:g.68840958dup, NC_000012.11:g.68840957_68840958dup, NC_000012.11:g.68840956_68840958dup, NC_000012.11:g.68840955_68840958dup, NC_000012.11:g.68840954_68840958dup, NC_000012.11:g.68840953_68840958dup, NC_000012.11:g.68840952_68840958dup, NC_000012.11:g.68840951_68840958dup, NC_000012.11:g.68840950_68840958dup, NC_000012.11:g.68840949_68840958dup, NC_000012.11:g.68840948_68840958dup, NC_000012.11:g.68840947_68840958dup, NC_000012.11:g.68840946_68840958dup, NC_000012.11:g.68840945_68840958dup, NC_000012.11:g.68840944_68840958dup, NC_000012.11:g.68840943_68840958dup, NC_000012.11:g.68840942_68840958dup, NC_000012.11:g.68840941_68840958dup, NC_000012.11:g.68840940_68840958dup, NC_000012.11:g.68840939_68840958dup, NC_000012.11:g.68840938_68840958dup, NC_000012.11:g.68840937_68840958dup, NC_000012.11:g.68840936_68840958dup, NC_000012.11:g.68840935_68840958dup, NC_000012.11:g.68840934_68840958dup, NC_000012.11:g.68840933_68840958dup, NC_000012.11:g.68840932_68840958dup, NC_000012.11:g.68840931_68840958dup, NC_000012.11:g.68840958_68840959insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.68840958_68840959insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.68840958_68840959insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.68840958_68840959insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10dup, NG_079761.1:g.8_10dup, NG_079761.1:g.7_10dup, NG_079761.1:g.6_10dup, NG_079761.1:g.5_10dup, NG_079761.1:g.4_10dup, NG_079761.1:g.3_10dup, NG_079761.1:g.2_10dup, NG_079761.1:g.1_10dup, NG_079761.1:g.10_11insAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
6.
rs1490993388 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:68448452
(GRCh38)
12:68842232
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68448451:C:T
- Gene:
- LINC02384 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490713196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:68447525
(GRCh38)
12:68841305
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68447524:T:C
- Gene:
- LINC02384 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
8.
rs1490694654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:68432590
(GRCh38)
12:68826370
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68432589:C:G
- Gene:
- LINC02384 (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:
9.
rs1490477253 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 12:68449160
(GRCh38)
12:68842940
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68449159:TT:T
- Gene:
- LINC02384 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
10.
rs1490428066 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 12:68442106
(GRCh38)
12:68835887
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68442106:AAAA:AAAAA
- Gene:
- LINC02384 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAA=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
11.
rs1490401506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:68441206
(GRCh38)
12:68834986
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68441205:C:T
- Gene:
- LINC02384 (Varview)
- Functional Consequence:
- 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:
12.
rs1490242274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:68441654
(GRCh38)
12:68835434
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68441653:G:A,NC_000012.12:68441653:G:C
- Gene:
- LINC02384 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490208213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 12:68450460
(GRCh38)
12:68844240
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68450459:T:C,NC_000012.12:68450459:T:G
- Gene:
- LINC02384 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000009/1
(GnomAD)
G=0.000547/1
(Korea1K)
G=0.001239/21
(TOMMO)
- HGVS:
15.
rs1490145221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:68450034
(GRCh38)
12:68843814
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68450033:G:A
- Gene:
- LINC02384 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1489704917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:68435805
(GRCh38)
12:68829585
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68435804:T:C
- Gene:
- LINC02384 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1489651100 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:68447917
(GRCh38)
12:68841697
(GRCh37)
- Canonical SPDI:
- NC_000012.12:68447916:C:G
- Gene:
- LINC02384 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: