Links from Gene
Items: 1 to 20 of 1000
1.
rs1491566727 has merged into rs1162503837 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:51018012
(GRCh38)
19:51521268
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018000:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.51018012_51018025del, NC_000019.10:g.51018013_51018025del, NC_000019.10:g.51018015_51018025del, NC_000019.10:g.51018016_51018025del, NC_000019.10:g.51018017_51018025del, NC_000019.10:g.51018018_51018025del, NC_000019.10:g.51018019_51018025del, NC_000019.10:g.51018020_51018025del, NC_000019.10:g.51018021_51018025del, NC_000019.10:g.51018022_51018025del, NC_000019.10:g.51018023_51018025del, NC_000019.10:g.51018024_51018025del, NC_000019.10:g.51018025del, NC_000019.10:g.51018025dup, NC_000019.10:g.51018024_51018025dup, NC_000019.10:g.51018023_51018025dup, NC_000019.10:g.51018022_51018025dup, NC_000019.10:g.51018021_51018025dup, NC_000019.10:g.51018020_51018025dup, NC_000019.10:g.51018019_51018025dup, NC_000019.10:g.51018018_51018025dup, NC_000019.10:g.51018017_51018025dup, NC_000019.10:g.51018016_51018025dup, NC_000019.9:g.51521268_51521281del, NC_000019.9:g.51521269_51521281del, NC_000019.9:g.51521271_51521281del, NC_000019.9:g.51521272_51521281del, NC_000019.9:g.51521273_51521281del, NC_000019.9:g.51521274_51521281del, NC_000019.9:g.51521275_51521281del, NC_000019.9:g.51521276_51521281del, NC_000019.9:g.51521277_51521281del, NC_000019.9:g.51521278_51521281del, NC_000019.9:g.51521279_51521281del, NC_000019.9:g.51521280_51521281del, NC_000019.9:g.51521281del, NC_000019.9:g.51521281dup, NC_000019.9:g.51521280_51521281dup, NC_000019.9:g.51521279_51521281dup, NC_000019.9:g.51521278_51521281dup, NC_000019.9:g.51521277_51521281dup, NC_000019.9:g.51521276_51521281dup, NC_000019.9:g.51521275_51521281dup, NC_000019.9:g.51521274_51521281dup, NC_000019.9:g.51521273_51521281dup, NC_000019.9:g.51521272_51521281dup
2.
rs1491447113 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,GGGG
[Show Flanks]
- Chromosome:
- 19:51020237
(GRCh38)
19:51523493
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51020235:GGG:G,NC_000019.10:51020235:GGG:GGGGG
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.14492/1719
(
ALFA)
-=0.0762/1271
(TOMMO)
-=0.17428/16506
(GnomAD)
-=0.18367/108
(NorthernSweden)
-=0.34536/1331
(ALSPAC)
-=0.34574/1282
(TWINSUK)
- HGVS:
3.
rs1491417983 has merged into rs35154267 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,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,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAGGGAAAAAAAAAGAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAGGAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGGAAAGAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGGAAAAAAAAAAAGAAAGAAAGAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGGAAAAAAAAAGAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGGAAAGAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGGAAAGAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:51018173
(GRCh38)
19:51521429
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGAAAAAAAAAGAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAGAAAGAAAGAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAGAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51018164:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.0041/1
(NorthernSweden)
- HGVS:
NC_000019.10:g.51018173_51018186del, NC_000019.10:g.51018176_51018186del, NC_000019.10:g.51018177_51018186del, NC_000019.10:g.51018178_51018186del, NC_000019.10:g.51018179_51018186del, NC_000019.10:g.51018180_51018186del, NC_000019.10:g.51018181_51018186del, NC_000019.10:g.51018182_51018186del, NC_000019.10:g.51018183_51018186del, NC_000019.10:g.51018184_51018186del, NC_000019.10:g.51018185_51018186del, NC_000019.10:g.51018186del, NC_000019.10:g.51018186dup, NC_000019.10:g.51018185_51018186dup, NC_000019.10:g.51018184_51018186dup, NC_000019.10:g.51018183_51018186dup, NC_000019.10:g.51018182_51018186dup, NC_000019.10:g.51018181_51018186dup, NC_000019.10:g.51018180_51018186dup, NC_000019.10:g.51018179_51018186dup, NC_000019.10:g.51018178_51018186dup, NC_000019.10:g.51018177_51018186dup, NC_000019.10:g.51018176_51018186dup, NC_000019.10:g.51018175_51018186dup, NC_000019.10:g.51018174_51018186dup, NC_000019.10:g.51018173_51018186dup, NC_000019.10:g.51018172_51018186dup, NC_000019.10:g.51018171_51018186dup, NC_000019.10:g.51018170_51018186dup, NC_000019.10:g.51018169_51018186dup, NC_000019.10:g.51018168_51018186dup, NC_000019.10:g.51018167_51018186dup, NC_000019.10:g.51018166_51018186dup, NC_000019.10:g.51018165_51018186dup, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018186_51018187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51018165_51018186A[47]GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.51018165_51018186A[46]GA[3]A[31], NC_000019.10:g.51018165_51018186A[40]GGAAAGAAAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.51018165_51018186A[40]GGAAAGAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.51018165_51018186A[37]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.51018165_51018186A[37]GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.51018165_51018186A[34]GGGAAAAAAAAAGAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.51018165_51018186A[26]GGAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.51018165_51018186A[26]GGAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.51018165_51018186A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.51018165_51018186A[25]GGAAAGAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.51018165_51018186A[24]GGAAAAAAAAAAAGAAAGAAAGAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.51018165_51018186A[24]GGAAAAAAAAAGAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.51018165_51018186A[24]GGAAAGAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.51018165_51018186A[24]GGAAAGAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.51521429_51521442del, NC_000019.9:g.51521432_51521442del, NC_000019.9:g.51521433_51521442del, NC_000019.9:g.51521434_51521442del, NC_000019.9:g.51521435_51521442del, NC_000019.9:g.51521436_51521442del, NC_000019.9:g.51521437_51521442del, NC_000019.9:g.51521438_51521442del, NC_000019.9:g.51521439_51521442del, NC_000019.9:g.51521440_51521442del, NC_000019.9:g.51521441_51521442del, NC_000019.9:g.51521442del, NC_000019.9:g.51521442dup, NC_000019.9:g.51521441_51521442dup, NC_000019.9:g.51521440_51521442dup, NC_000019.9:g.51521439_51521442dup, NC_000019.9:g.51521438_51521442dup, NC_000019.9:g.51521437_51521442dup, NC_000019.9:g.51521436_51521442dup, NC_000019.9:g.51521435_51521442dup, NC_000019.9:g.51521434_51521442dup, NC_000019.9:g.51521433_51521442dup, NC_000019.9:g.51521432_51521442dup, NC_000019.9:g.51521431_51521442dup, NC_000019.9:g.51521430_51521442dup, NC_000019.9:g.51521429_51521442dup, NC_000019.9:g.51521428_51521442dup, NC_000019.9:g.51521427_51521442dup, NC_000019.9:g.51521426_51521442dup, NC_000019.9:g.51521425_51521442dup, NC_000019.9:g.51521424_51521442dup, NC_000019.9:g.51521423_51521442dup, NC_000019.9:g.51521422_51521442dup, NC_000019.9:g.51521421_51521442dup, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521442_51521443insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51521421_51521442A[47]GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.51521421_51521442A[46]GA[3]A[31], NC_000019.9:g.51521421_51521442A[40]GGAAAGAAAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.51521421_51521442A[40]GGAAAGAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.51521421_51521442A[37]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.51521421_51521442A[37]GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.51521421_51521442A[34]GGGAAAAAAAAAGAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.51521421_51521442A[26]GGAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.51521421_51521442A[26]GGAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.51521421_51521442A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.51521421_51521442A[25]GGAAAGAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.51521421_51521442A[24]GGAAAAAAAAAAAGAAAGAAAGAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.51521421_51521442A[24]GGAAAAAAAAAGAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.51521421_51521442A[24]GGAAAGAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.51521421_51521442A[24]GGAAAGAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
5.
rs1491181683 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 19:51015181
(GRCh38)
19:51518437
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51015180:TT:
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1491125794 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 19:51018000
(GRCh38)
19:51521256
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51017999:CA:
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00059/7
(
ALFA)
-=0.00067/15
(TOMMO)
- HGVS:
7.
rs1491092500 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGTA
[Show Flanks]
- Chromosome:
- 19:51015181
(GRCh38)
19:51518438
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51015181:TGTA:TGTATGTA
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTATGTA=0./0
(
ALFA)
TGTA=0./0
(GnomAD)
- HGVS:
8.
rs1490779119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:51014665
(GRCh38)
19:51517921
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51014664:G:A
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000019.10:g.51014665G>A, NC_000019.9:g.51517921G>A, XM_006723287.5:c.*135C>T, XM_006723287.4:c.*135C>T, XM_006723287.3:c.*135C>T, XM_006723287.2:c.*135C>T, XM_006723287.1:c.*135C>T, NM_002776.5:c.*135C>T, NM_002776.4:c.*135C>T, XM_005259061.4:c.*135C>T, XM_005259061.3:c.*135C>T, XM_005259061.2:c.*135C>T, XM_005259061.1:c.*135C>T, XM_005259062.4:c.*135C>T, XM_005259062.3:c.*135C>T, XM_005259062.2:c.*135C>T, XM_005259062.1:c.*135C>T, XM_006723289.4:c.*135C>T, XM_006723289.3:c.*135C>T, XM_006723289.2:c.*135C>T, XM_006723289.1:c.*135C>T, XM_017026993.3:c.*135C>T, XM_017026993.2:c.*135C>T, XM_017026993.1:c.*135C>T, NM_145888.3:c.*135C>T, NM_145888.2:c.*135C>T, NM_001077500.2:c.*135C>T, NM_001077500.1:c.*135C>T, XM_047439102.1:c.*135C>T
9.
rs1490578363 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:51021240
(GRCh38)
19:51524496
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51021239:A:G
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
10.
rs1490473843 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:51020818
(GRCh38)
19:51524074
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51020817:G:T
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490456293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:51021853
(GRCh38)
19:51525109
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51021852:T:C
- Gene:
- KLK10 (Varview), KLK11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490354000 has merged into rs10559528 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGAGAGAGAGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
[Show Flanks]
- Chromosome:
- 19:51020217
(GRCh38)
19:51523473
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:51020198:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGAGAGAG=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000019.10:g.51020199AG[9], NC_000019.10:g.51020199AG[10], NC_000019.10:g.51020199AG[11], NC_000019.10:g.51020199AG[12], NC_000019.10:g.51020199AG[13], NC_000019.10:g.51020199AG[14], NC_000019.10:g.51020199AG[15], NC_000019.10:g.51020199AG[16], NC_000019.10:g.51020199AG[17], NC_000019.10:g.51020199AG[18], NC_000019.10:g.51020199AG[20], NC_000019.10:g.51020199AG[21], NC_000019.10:g.51020199AG[22], NC_000019.10:g.51020199AG[23], NC_000019.10:g.51020199AG[24], NC_000019.10:g.51020199AG[25], NC_000019.10:g.51020199AG[26], NC_000019.10:g.51020199AG[27], NC_000019.10:g.51020199AG[28], NC_000019.10:g.51020199AG[29], NC_000019.10:g.51020199AG[30], NC_000019.10:g.51020199AG[31], NC_000019.10:g.51020199AG[32], NC_000019.10:g.51020199AG[33], NC_000019.10:g.51020199AG[34], NC_000019.10:g.51020199AG[35], NC_000019.10:g.51020199AG[36], NC_000019.10:g.51020199AG[37], NC_000019.10:g.51020199AG[38], NC_000019.10:g.51020199AG[39], NC_000019.10:g.51020199AG[40], NC_000019.10:g.51020199AG[42], NC_000019.9:g.51523455AG[9], NC_000019.9:g.51523455AG[10], NC_000019.9:g.51523455AG[11], NC_000019.9:g.51523455AG[12], NC_000019.9:g.51523455AG[13], NC_000019.9:g.51523455AG[14], NC_000019.9:g.51523455AG[15], NC_000019.9:g.51523455AG[16], NC_000019.9:g.51523455AG[17], NC_000019.9:g.51523455AG[18], NC_000019.9:g.51523455AG[20], NC_000019.9:g.51523455AG[21], NC_000019.9:g.51523455AG[22], NC_000019.9:g.51523455AG[23], NC_000019.9:g.51523455AG[24], NC_000019.9:g.51523455AG[25], NC_000019.9:g.51523455AG[26], NC_000019.9:g.51523455AG[27], NC_000019.9:g.51523455AG[28], NC_000019.9:g.51523455AG[29], NC_000019.9:g.51523455AG[30], NC_000019.9:g.51523455AG[31], NC_000019.9:g.51523455AG[32], NC_000019.9:g.51523455AG[33], NC_000019.9:g.51523455AG[34], NC_000019.9:g.51523455AG[35], NC_000019.9:g.51523455AG[36], NC_000019.9:g.51523455AG[37], NC_000019.9:g.51523455AG[38], NC_000019.9:g.51523455AG[39], NC_000019.9:g.51523455AG[40], NC_000019.9:g.51523455AG[42]
13.
rs1490092026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:51022133
(GRCh38)
19:51525389
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51022132:G:A
- Gene:
- KLK11 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
14.
rs1489428456 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:51017936
(GRCh38)
19:51521192
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51017935:G:A
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489340816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:51013645
(GRCh38)
19:51516901
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51013644:G:A
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000106/2
(TOMMO)
- HGVS:
NC_000019.10:g.51013645G>A, NC_000019.9:g.51516901G>A, NG_027832.1:g.990C>T, XM_006723287.5:c.*1155C>T, XM_006723287.1:c.*1155C>T, NM_002776.5:c.*1155C>T, NM_002776.4:c.*1155C>T, XM_005259061.4:c.*1155C>T, XM_005259061.1:c.*1155C>T, XM_005259062.4:c.*1155C>T, XM_005259062.1:c.*1155C>T, XM_006723289.4:c.*1155C>T, XM_006723289.1:c.*1155C>T, XM_017026993.3:c.*1155C>T, NM_145888.3:c.*1155C>T, NM_145888.2:c.*1155C>T, NM_001077500.2:c.*1155C>T, NM_001077500.1:c.*1155C>T, XM_047439102.1:c.*1155C>T
16.
rs1487571532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:51020482
(GRCh38)
19:51523738
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51020481:G:C
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1487474264 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:51015433
(GRCh38)
19:51518689
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51015432:C:T
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.51015433C>T, NC_000019.9:g.51518689C>T, XM_006723287.5:c.662G>A, XM_006723287.4:c.662G>A, XM_006723287.3:c.662G>A, XM_006723287.2:c.662G>A, XM_006723287.1:c.662G>A, NM_002776.5:c.662G>A, NM_002776.4:c.662G>A, XM_005259061.4:c.662G>A, XM_005259061.3:c.662G>A, XM_005259061.2:c.662G>A, XM_005259061.1:c.662G>A, XM_005259062.4:c.662G>A, XM_005259062.3:c.662G>A, XM_005259062.2:c.662G>A, XM_005259062.1:c.662G>A, XM_006723289.4:c.662G>A, XM_006723289.3:c.662G>A, XM_006723289.2:c.662G>A, XM_006723289.1:c.662G>A, XM_017026993.3:c.662G>A, XM_017026993.2:c.662G>A, XM_017026993.1:c.662G>A, NM_145888.3:c.662G>A, NM_145888.2:c.662G>A, NM_001077500.2:c.662G>A, NM_001077500.1:c.662G>A, XM_047439102.1:c.662G>A, XP_006723350.1:p.Gly221Asp, NP_002767.2:p.Gly221Asp, XP_005259118.1:p.Gly221Asp, XP_005259119.1:p.Gly221Asp, XP_006723352.1:p.Gly221Asp, XP_016882482.1:p.Gly221Asp, NP_665895.1:p.Gly221Asp, NP_001070968.1:p.Gly221Asp, XP_047295058.1:p.Gly221Asp
18.
rs1487413263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:51017045
(GRCh38)
19:51520301
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51017044:C:A
- Gene:
- KLK10 (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:
19.
rs1487292221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:51012308
(GRCh38)
19:51515564
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51012307:C:T
- Gene:
- KLK10 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1486801128 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGAGATT>-
[Show Flanks]
- Chromosome:
- 19:51021775
(GRCh38)
19:51525031
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51021773:TTGAGATT:T
- Gene:
- KLK10 (Varview), KLK11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: