Links from Gene
Items: 1 to 20 of 1000
1.
rs1491577482 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 4:87653387
(GRCh38)
4:88574540
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87653387:T:TT
- Gene:
- DMP1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.00021/1
(GnomAD)
- HGVS:
2.
rs1491565056 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 4:87661313
(GRCh38)
4:88582465
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87661312:TG:
- Gene:
- DMP1 (Varview), LOC105377323 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491532522 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 4:87661314
(GRCh38)
4:88582466
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87661313:GGGG:GGG,NC_000004.12:87661313:GGGG:GGGGG
- Gene:
- DMP1 (Varview), LOC105377323 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGG=0.000169/2
(
ALFA)
-=0.000083/11
(GnomAD)
- HGVS:
4.
rs1491470862 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 4:87664065
(GRCh38)
4:88585217
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87664064:AT:
- Gene:
- DMP1 (Varview), LOC105377323 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00002/1
(GnomAD)
- HGVS:
NC_000004.12:g.87664065_87664066del, NC_000004.11:g.88585217_88585218del, NG_008988.1:g.18764_18765del, NM_004407.4:c.*745_*746del, NM_004407.3:c.*745_*746del, NM_001079911.3:c.*745_*746del, NM_001079911.2:c.*745_*746del, XM_011531705.3:c.*745_*746del, XM_011531705.2:c.*745_*746del, XM_011531705.1:c.*745_*746del, XM_011531706.3:c.*745_*746del, XM_011531706.2:c.*745_*746del, XM_011531706.1:c.*745_*746del
5.
rs1491458292 has merged into rs34488194 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT
[Show Flanks]
- Chromosome:
- 4:87664076
(GRCh38)
4:88585228
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87664065:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:87664065:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:87664065:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:87664065:TTTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- DMP1 (Varview), LOC105377323 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Clinical significance:
- benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.2753/1061
(ALSPAC)
TT=0.3264/846
(1000Genomes)
- HGVS:
NC_000004.12:g.87664076_87664078del, NC_000004.12:g.87664077_87664078del, NC_000004.12:g.87664078del, NC_000004.12:g.87664078dup, NC_000004.11:g.88585228_88585230del, NC_000004.11:g.88585229_88585230del, NC_000004.11:g.88585230del, NC_000004.11:g.88585230dup, NG_008988.1:g.18775_18777del, NG_008988.1:g.18776_18777del, NG_008988.1:g.18777del, NG_008988.1:g.18777dup, NM_004407.4:c.*756_*758del, NM_004407.4:c.*757_*758del, NM_004407.4:c.*758del, NM_004407.4:c.*758dup, NM_004407.3:c.*756_*758del, NM_004407.3:c.*757_*758del, NM_004407.3:c.*758del, NM_004407.3:c.*758dup, NM_001079911.3:c.*756_*758del, NM_001079911.3:c.*757_*758del, NM_001079911.3:c.*758del, NM_001079911.3:c.*758dup, NM_001079911.2:c.*756_*758del, NM_001079911.2:c.*757_*758del, NM_001079911.2:c.*758del, NM_001079911.2:c.*758dup, XM_011531705.3:c.*756_*758del, XM_011531705.3:c.*757_*758del, XM_011531705.3:c.*758del, XM_011531705.3:c.*758dup, XM_011531705.2:c.*756_*758del, XM_011531705.2:c.*757_*758del, XM_011531705.2:c.*758del, XM_011531705.2:c.*758dup, XM_011531705.1:c.*756_*758del, XM_011531705.1:c.*757_*758del, XM_011531705.1:c.*758del, XM_011531705.1:c.*758dup, XM_011531706.3:c.*756_*758del, XM_011531706.3:c.*757_*758del, XM_011531706.3:c.*758del, XM_011531706.3:c.*758dup, XM_011531706.2:c.*756_*758del, XM_011531706.2:c.*757_*758del, XM_011531706.2:c.*758del, XM_011531706.2:c.*758dup, XM_011531706.1:c.*756_*758del, XM_011531706.1:c.*757_*758del, XM_011531706.1:c.*758del, XM_011531706.1:c.*758dup
6.
rs1491123509 has merged into rs57266829 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 4:87653396
(GRCh38)
4:88574548
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:87653386:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
- Gene:
- DMP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATA=0./0
(
ALFA)
ATATATATATAT=0.025/1
(GENOME_DK)
- HGVS:
NC_000004.12:g.87653388TA[4], NC_000004.12:g.87653388TA[5], NC_000004.12:g.87653388TA[6], NC_000004.12:g.87653388TA[7], NC_000004.12:g.87653388TA[8], NC_000004.12:g.87653388TA[9], NC_000004.12:g.87653388TA[10], NC_000004.12:g.87653388TA[11], NC_000004.12:g.87653388TA[12], NC_000004.12:g.87653388TA[13], NC_000004.12:g.87653388TA[14], NC_000004.12:g.87653388TA[15], NC_000004.12:g.87653388TA[16], NC_000004.12:g.87653388TA[17], NC_000004.12:g.87653388TA[18], NC_000004.12:g.87653388TA[19], NC_000004.12:g.87653388TA[20], NC_000004.12:g.87653388TA[21], NC_000004.12:g.87653388TA[22], NC_000004.12:g.87653388TA[24], NC_000004.12:g.87653388TA[25], NC_000004.12:g.87653388TA[26], NC_000004.12:g.87653388TA[27], NC_000004.12:g.87653388TA[28], NC_000004.12:g.87653388TA[29], NC_000004.12:g.87653388TA[30], NC_000004.12:g.87653388TA[31], NC_000004.12:g.87653388TA[33], NC_000004.12:g.87653388TA[34], NC_000004.11:g.88574540TA[4], NC_000004.11:g.88574540TA[5], NC_000004.11:g.88574540TA[6], NC_000004.11:g.88574540TA[7], NC_000004.11:g.88574540TA[8], NC_000004.11:g.88574540TA[9], NC_000004.11:g.88574540TA[10], NC_000004.11:g.88574540TA[11], NC_000004.11:g.88574540TA[12], NC_000004.11:g.88574540TA[13], NC_000004.11:g.88574540TA[14], NC_000004.11:g.88574540TA[15], NC_000004.11:g.88574540TA[16], NC_000004.11:g.88574540TA[17], NC_000004.11:g.88574540TA[18], NC_000004.11:g.88574540TA[19], NC_000004.11:g.88574540TA[20], NC_000004.11:g.88574540TA[21], NC_000004.11:g.88574540TA[22], NC_000004.11:g.88574540TA[24], NC_000004.11:g.88574540TA[25], NC_000004.11:g.88574540TA[26], NC_000004.11:g.88574540TA[27], NC_000004.11:g.88574540TA[28], NC_000004.11:g.88574540TA[29], NC_000004.11:g.88574540TA[30], NC_000004.11:g.88574540TA[31], NC_000004.11:g.88574540TA[33], NC_000004.11:g.88574540TA[34], NG_008988.1:g.8087TA[4], NG_008988.1:g.8087TA[5], NG_008988.1:g.8087TA[6], NG_008988.1:g.8087TA[7], NG_008988.1:g.8087TA[8], NG_008988.1:g.8087TA[9], NG_008988.1:g.8087TA[10], NG_008988.1:g.8087TA[11], NG_008988.1:g.8087TA[12], NG_008988.1:g.8087TA[13], NG_008988.1:g.8087TA[14], NG_008988.1:g.8087TA[15], NG_008988.1:g.8087TA[16], NG_008988.1:g.8087TA[17], NG_008988.1:g.8087TA[18], NG_008988.1:g.8087TA[19], NG_008988.1:g.8087TA[20], NG_008988.1:g.8087TA[21], NG_008988.1:g.8087TA[22], NG_008988.1:g.8087TA[24], NG_008988.1:g.8087TA[25], NG_008988.1:g.8087TA[26], NG_008988.1:g.8087TA[27], NG_008988.1:g.8087TA[28], NG_008988.1:g.8087TA[29], NG_008988.1:g.8087TA[30], NG_008988.1:g.8087TA[31], NG_008988.1:g.8087TA[33], NG_008988.1:g.8087TA[34]
7.
rs1490619998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:87661796
(GRCh38)
4:88582948
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87661795:C:T
- Gene:
- DMP1 (Varview), LOC105377323 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489791362 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:87662274
(GRCh38)
4:88583426
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87662273:A:C
- Gene:
- DMP1 (Varview), LOC105377323 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
NC_000004.12:g.87662274A>C, NC_000004.11:g.88583426A>C, NG_008988.1:g.16973A>C, NM_004407.4:c.496A>C, NM_004407.3:c.496A>C, NM_001079911.3:c.448A>C, NM_001079911.2:c.448A>C, XM_011531705.3:c.583A>C, XM_011531705.2:c.583A>C, XM_011531705.1:c.583A>C, XM_011531706.3:c.535A>C, XM_011531706.2:c.535A>C, XM_011531706.1:c.535A>C
10.
rs1488642157 has merged into rs70957272 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:87661216
(GRCh38)
4:88582368
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:87661204:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DMP1 (Varview), LOC105377323 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.0271/16
(NorthernSweden)
- HGVS:
NC_000004.12:g.87661216_87661240del, NC_000004.12:g.87661217_87661240del, NC_000004.12:g.87661218_87661240del, NC_000004.12:g.87661219_87661240del, NC_000004.12:g.87661220_87661240del, NC_000004.12:g.87661221_87661240del, NC_000004.12:g.87661222_87661240del, NC_000004.12:g.87661223_87661240del, NC_000004.12:g.87661224_87661240del, NC_000004.12:g.87661225_87661240del, NC_000004.12:g.87661226_87661240del, NC_000004.12:g.87661227_87661240del, NC_000004.12:g.87661228_87661240del, NC_000004.12:g.87661229_87661240del, NC_000004.12:g.87661230_87661240del, NC_000004.12:g.87661231_87661240del, NC_000004.12:g.87661232_87661240del, NC_000004.12:g.87661233_87661240del, NC_000004.12:g.87661234_87661240del, NC_000004.12:g.87661235_87661240del, NC_000004.12:g.87661236_87661240del, NC_000004.12:g.87661237_87661240del, NC_000004.12:g.87661238_87661240del, NC_000004.12:g.87661239_87661240del, NC_000004.12:g.87661240del, NC_000004.12:g.87661240dup, NC_000004.12:g.87661239_87661240dup, NC_000004.12:g.87661238_87661240dup, NC_000004.12:g.87661237_87661240dup, NC_000004.12:g.87661236_87661240dup, NC_000004.12:g.87661235_87661240dup, NC_000004.12:g.87661234_87661240dup, NC_000004.12:g.87661233_87661240dup, NC_000004.12:g.87661232_87661240dup, NC_000004.12:g.87661231_87661240dup, NC_000004.12:g.87661230_87661240dup, NC_000004.12:g.87661229_87661240dup, NC_000004.12:g.87661228_87661240dup, NC_000004.12:g.87661226_87661240dup, NC_000004.11:g.88582368_88582392del, NC_000004.11:g.88582369_88582392del, NC_000004.11:g.88582370_88582392del, NC_000004.11:g.88582371_88582392del, NC_000004.11:g.88582372_88582392del, NC_000004.11:g.88582373_88582392del, NC_000004.11:g.88582374_88582392del, NC_000004.11:g.88582375_88582392del, NC_000004.11:g.88582376_88582392del, NC_000004.11:g.88582377_88582392del, NC_000004.11:g.88582378_88582392del, NC_000004.11:g.88582379_88582392del, NC_000004.11:g.88582380_88582392del, NC_000004.11:g.88582381_88582392del, NC_000004.11:g.88582382_88582392del, NC_000004.11:g.88582383_88582392del, NC_000004.11:g.88582384_88582392del, NC_000004.11:g.88582385_88582392del, NC_000004.11:g.88582386_88582392del, NC_000004.11:g.88582387_88582392del, NC_000004.11:g.88582388_88582392del, NC_000004.11:g.88582389_88582392del, NC_000004.11:g.88582390_88582392del, NC_000004.11:g.88582391_88582392del, NC_000004.11:g.88582392del, NC_000004.11:g.88582392dup, NC_000004.11:g.88582391_88582392dup, NC_000004.11:g.88582390_88582392dup, NC_000004.11:g.88582389_88582392dup, NC_000004.11:g.88582388_88582392dup, NC_000004.11:g.88582387_88582392dup, NC_000004.11:g.88582386_88582392dup, NC_000004.11:g.88582385_88582392dup, NC_000004.11:g.88582384_88582392dup, NC_000004.11:g.88582383_88582392dup, NC_000004.11:g.88582382_88582392dup, NC_000004.11:g.88582381_88582392dup, NC_000004.11:g.88582380_88582392dup, NC_000004.11:g.88582378_88582392dup, NG_008988.1:g.15915_15939del, NG_008988.1:g.15916_15939del, NG_008988.1:g.15917_15939del, NG_008988.1:g.15918_15939del, NG_008988.1:g.15919_15939del, NG_008988.1:g.15920_15939del, NG_008988.1:g.15921_15939del, NG_008988.1:g.15922_15939del, NG_008988.1:g.15923_15939del, NG_008988.1:g.15924_15939del, NG_008988.1:g.15925_15939del, NG_008988.1:g.15926_15939del, NG_008988.1:g.15927_15939del, NG_008988.1:g.15928_15939del, NG_008988.1:g.15929_15939del, NG_008988.1:g.15930_15939del, NG_008988.1:g.15931_15939del, NG_008988.1:g.15932_15939del, NG_008988.1:g.15933_15939del, NG_008988.1:g.15934_15939del, NG_008988.1:g.15935_15939del, NG_008988.1:g.15936_15939del, NG_008988.1:g.15937_15939del, NG_008988.1:g.15938_15939del, NG_008988.1:g.15939del, NG_008988.1:g.15939dup, NG_008988.1:g.15938_15939dup, NG_008988.1:g.15937_15939dup, NG_008988.1:g.15936_15939dup, NG_008988.1:g.15935_15939dup, NG_008988.1:g.15934_15939dup, NG_008988.1:g.15933_15939dup, NG_008988.1:g.15932_15939dup, NG_008988.1:g.15931_15939dup, NG_008988.1:g.15930_15939dup, NG_008988.1:g.15929_15939dup, NG_008988.1:g.15928_15939dup, NG_008988.1:g.15927_15939dup, NG_008988.1:g.15925_15939dup
11.
rs1488588040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:87663318
(GRCh38)
4:88584470
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87663317:T:C
- Gene:
- DMP1 (Varview), LOC105377323 (Varview)
- Functional Consequence:
- intron_variant,stop_lost,terminator_codon_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000004.12:g.87663318T>C, NC_000004.11:g.88584470T>C, NG_008988.1:g.18017T>C, NM_004407.4:c.1540T>C, NM_004407.3:c.1540T>C, NM_001079911.3:c.1492T>C, NM_001079911.2:c.1492T>C, XM_011531705.3:c.1627T>C, XM_011531705.2:c.1627T>C, XM_011531705.1:c.1627T>C, XM_011531706.3:c.1579T>C, XM_011531706.2:c.1579T>C, XM_011531706.1:c.1579T>C, NP_004398.1:p.Ter514Gln, NP_001073380.1:p.Ter498Gln, XP_011530007.1:p.Ter543Gln, XP_011530008.1:p.Ter527Gln
12.
rs1488405156 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:87657054
(GRCh38)
4:88578206
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87657053:A:G
- Gene:
- DMP1 (Varview), LOC105377323 (Varview)
- Functional Consequence:
- missense_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
NC_000004.12:g.87657054A>G, NC_000004.11:g.88578206A>G, NG_008988.1:g.11753A>G, NM_004407.4:c.77A>G, NM_004407.3:c.77A>G, NM_001079911.3:c.77A>G, NM_001079911.2:c.77A>G, XM_011531705.3:c.164A>G, XM_011531705.2:c.164A>G, XM_011531705.1:c.164A>G, XM_011531706.3:c.164A>G, XM_011531706.2:c.164A>G, XM_011531706.1:c.164A>G, NP_004398.1:p.Glu26Gly, NP_001073380.1:p.Glu26Gly, XP_011530007.1:p.Glu55Gly, XP_011530008.1:p.Glu55Gly
13.
rs1488361010 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:87655822
(GRCh38)
4:88576974
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87655821:G:A
- Gene:
- DMP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1488073566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:87653214
(GRCh38)
4:88574366
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87653213:C:T
- Gene:
- DMP1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000022/3
(GnomAD)
- HGVS:
15.
rs1488058049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:87651518
(GRCh38)
4:88572670
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87651517:C:G
- Gene:
- DMP1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
16.
rs1487949220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:87655934
(GRCh38)
4:88577086
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87655933:T:C
- Gene:
- DMP1 (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:
17.
rs1487892104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:87648399
(GRCh38)
4:88569551
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87648398:G:A,NC_000004.12:87648398:G:C
- Gene:
- DMP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1487342068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:87648491
(GRCh38)
4:88569643
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87648490:C:T
- Gene:
- DMP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
19.
rs1487153962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:87657582
(GRCh38)
4:88578734
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87657581:C:G,NC_000004.12:87657581:C:T
- Gene:
- DMP1 (Varview), LOC105377323 (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:
20.
rs1486665132 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 4:87661660
(GRCh38)
4:88582813
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87661660::G
- Gene:
- DMP1 (Varview), LOC105377323 (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: