SNP Links for Gene (Select 4430) - SNP

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Select item 14915811581.

rs1491581158 [Homo sapiens]

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

Select item 14915783472.

rs1491578347 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:191313192 (GRCh38)
2:192177918 (GRCh37)
Canonical SPDI:: NC_000002.12:191313191:CT:
Gene:: MYO1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.191313192_191313193del, NC_000002.11:g.192177918_192177919del

Select item 14915593183.

rs1491559318 has merged into rs1553542801 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGC>-,GCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGC [Show Flanks]
Chromosome:: 2:191326818 (GRCh38)
2:192191544 (GRCh37)
Canonical SPDI:: NC_000002.12:191326815:GCGCGCGC:GC,NC_000002.12:191326815:GCGCGCGC:GCGCGC,NC_000002.12:191326815:GCGCGCGC:GCGCGCGCGC,NC_000002.12:191326815:GCGCGCGC:GCGCGCGCGCGC,NC_000002.12:191326815:GCGCGCGC:GCGCGCGCGCGCGC
Gene:: MYO1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
HGVS:: NC_000002.12:g.191326816GC[1], NC_000002.12:g.191326816GC[3], NC_000002.12:g.191326816GC[5], NC_000002.12:g.191326816GC[6], NC_000002.12:g.191326816GC[7], NC_000002.11:g.192191542GC[1], NC_000002.11:g.192191542GC[3], NC_000002.11:g.192191542GC[5], NC_000002.11:g.192191542GC[6], NC_000002.11:g.192191542GC[7]

Select item 14914867424.

rs1491486742 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:191397129 (GRCh38)
2:192261856 (GRCh37)
Canonical SPDI:: NC_000002.12:191397129::G
Gene:: MYO1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.191397129_191397130insG, NC_000002.11:g.192261855_192261856insG

Select item 14914792715.

rs1491479271 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACA [Show Flanks]
Chromosome:: 2:191383449 (GRCh38)
2:192248176 (GRCh37)
Canonical SPDI:: NC_000002.12:191383449:A:ACACA
Gene:: MYO1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
ACAC=0.0198/271 (GnomAD)
HGVS:: NC_000002.12:g.191383450_191383451insCACA, NC_000002.11:g.192248176_192248177insCACA

Select item 14914779776.

rs1491477977 has merged into rs71030330 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,CC,CCC,CCCCC [Show Flanks]
Chromosome:: 2:191246557 (GRCh38)
2:192111283 (GRCh37)
Canonical SPDI:: NC_000002.12:191246550:CCCCCCCCCC:CCCCCC,NC_000002.12:191246550:CCCCCCCCCC:CCCCCCCC,NC_000002.12:191246550:CCCCCCCCCC:CCCCCCCCC,NC_000002.12:191246550:CCCCCCCCCC:CCCCCCCCCCC
Gene:: MYO1B (Varview), STAT4 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
C=0./0 (ALSPAC)
C=0./0 (TWINSUK)
C=0.0068/30 (Estonian)
C=0.0798/400 (1000Genomes)
HGVS:: NC_000002.12:g.191246557_191246560del, NC_000002.12:g.191246559_191246560del, NC_000002.12:g.191246560del, NC_000002.12:g.191246560dup, NC_000002.11:g.192111283_192111286del, NC_000002.11:g.192111285_192111286del, NC_000002.11:g.192111286del, NC_000002.11:g.192111286dup

Select item 14914387067.

rs1491438706 [Homo sapiens]

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

Select item 14913692688.

rs1491369268 [Homo sapiens]

Variant type:: INS
Alleles:: ->TCGCCGTATC [Show Flanks]
Chromosome:: 2:191334972 (GRCh38)
2:192199699 (GRCh37)
Canonical SPDI:: NC_000002.12:191334972::TCGCCGTATC
Gene:: MYO1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCGCCGTATC=0.00125/19 (ALFA)
HGVS:: NC_000002.12:g.191334972_191334973insTCGCCGTATC, NC_000002.11:g.192199698_192199699insTCGCCGTATC

Select item 14913098189.

rs1491309818 [Homo sapiens]

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

Select item 149130964010.

rs1491309640 has merged into rs1209689273 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATA,TATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA [Show Flanks]
Chromosome:: 2:191383467 (GRCh38)
2:192248193 (GRCh37)
Canonical SPDI:: NC_000002.12:191383448:TATATATATATATATATATATATATA:TATATATATATATATATA,NC_000002.12:191383448:TATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000002.12:191383448:TATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000002.12:191383448:TATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000002.12:191383448:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000002.12:191383448:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000002.12:191383448:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000002.12:191383448:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000002.12:191383448:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000002.12:191383448:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA
Gene:: MYO1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATA=0./0 (ALFA)
TA=0.00021/6 (TOMMO)
HGVS:: NC_000002.12:g.191383449TA[9], NC_000002.12:g.191383449TA[10], NC_000002.12:g.191383449TA[11], NC_000002.12:g.191383449TA[12], NC_000002.12:g.191383449TA[14], NC_000002.12:g.191383449TA[15], NC_000002.12:g.191383449TA[16], NC_000002.12:g.191383449TA[17], NC_000002.12:g.191383449TA[18], NC_000002.12:g.191383449TA[19], NC_000002.11:g.192248175TA[9], NC_000002.11:g.192248175TA[10], NC_000002.11:g.192248175TA[11], NC_000002.11:g.192248175TA[12], NC_000002.11:g.192248175TA[14], NC_000002.11:g.192248175TA[15], NC_000002.11:g.192248175TA[16], NC_000002.11:g.192248175TA[17], NC_000002.11:g.192248175TA[18], NC_000002.11:g.192248175TA[19]

Select item 149130680911.

rs1491306809 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: 2:191326771 (GRCh38)
2:192191498 (GRCh37)
Canonical SPDI:: NC_000002.12:191326771::AC
Gene:: MYO1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AC=0./0 (ALFA)
AC=0.00046/6 (GnomAD)
HGVS:: NC_000002.12:g.191326771_191326772insAC, NC_000002.11:g.192191497_192191498insAC

Select item 149128465912.

rs1491284659 has merged into rs1159016855 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:191418494 (GRCh38)
2:192283220 (GRCh37)
Canonical SPDI:: NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191418482:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MYO1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.191418494_191418506del, NC_000002.12:g.191418495_191418506del, NC_000002.12:g.191418497_191418506del, NC_000002.12:g.191418498_191418506del, NC_000002.12:g.191418499_191418506del, NC_000002.12:g.191418500_191418506del, NC_000002.12:g.191418501_191418506del, NC_000002.12:g.191418502_191418506del, NC_000002.12:g.191418503_191418506del, NC_000002.12:g.191418504_191418506del, NC_000002.12:g.191418505_191418506del, NC_000002.12:g.191418506del, NC_000002.12:g.191418506dup, NC_000002.12:g.191418505_191418506dup, NC_000002.12:g.191418504_191418506dup, NC_000002.12:g.191418503_191418506dup, NC_000002.12:g.191418502_191418506dup, NC_000002.12:g.191418501_191418506dup, NC_000002.12:g.191418500_191418506dup, NC_000002.12:g.191418499_191418506dup, NC_000002.12:g.191418498_191418506dup, NC_000002.12:g.191418497_191418506dup, NC_000002.12:g.191418496_191418506dup, NC_000002.12:g.191418495_191418506dup, NC_000002.12:g.191418494_191418506dup, NC_000002.12:g.191418492_191418506dup, NC_000002.12:g.191418491_191418506dup, NC_000002.12:g.191418490_191418506dup, NC_000002.12:g.191418489_191418506dup, NC_000002.12:g.191418488_191418506dup, NC_000002.12:g.191418484_191418506dup, NC_000002.12:g.191418506_191418507insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.191418506_191418507insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.191418506_191418507insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.191418506_191418507insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.192283220_192283232del, NC_000002.11:g.192283221_192283232del, NC_000002.11:g.192283223_192283232del, NC_000002.11:g.192283224_192283232del, NC_000002.11:g.192283225_192283232del, NC_000002.11:g.192283226_192283232del, NC_000002.11:g.192283227_192283232del, NC_000002.11:g.192283228_192283232del, NC_000002.11:g.192283229_192283232del, NC_000002.11:g.192283230_192283232del, NC_000002.11:g.192283231_192283232del, NC_000002.11:g.192283232del, NC_000002.11:g.192283232dup, NC_000002.11:g.192283231_192283232dup, NC_000002.11:g.192283230_192283232dup, NC_000002.11:g.192283229_192283232dup, NC_000002.11:g.192283228_192283232dup, NC_000002.11:g.192283227_192283232dup, NC_000002.11:g.192283226_192283232dup, NC_000002.11:g.192283225_192283232dup, NC_000002.11:g.192283224_192283232dup, NC_000002.11:g.192283223_192283232dup, NC_000002.11:g.192283222_192283232dup, NC_000002.11:g.192283221_192283232dup, NC_000002.11:g.192283220_192283232dup, NC_000002.11:g.192283218_192283232dup, NC_000002.11:g.192283217_192283232dup, NC_000002.11:g.192283216_192283232dup, NC_000002.11:g.192283215_192283232dup, NC_000002.11:g.192283214_192283232dup, NC_000002.11:g.192283210_192283232dup, NC_000002.11:g.192283232_192283233insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.192283232_192283233insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.192283232_192283233insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.192283232_192283233insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149122644113.

rs1491226441 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:191360754 (GRCh38)
2:192225480 (GRCh37)
Canonical SPDI:: NC_000002.12:191360753:TT:
Gene:: MYO1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000011/1 (ExAC)
-=0.000029/4 (GnomAD)
-=0.000121/21 (GnomAD_exomes)
HGVS:: NC_000002.12:g.191360754_191360755del, NC_000002.11:g.192225480_192225481del

Select item 149116736414.

rs1491167364 has merged into rs762175060 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT>-,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:191313197 (GRCh38)
2:192177923 (GRCh37)
Canonical SPDI:: NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191313192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MYO1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000002.12:g.191313197_191313227del, NC_000002.12:g.191313204_191313227del, NC_000002.12:g.191313205_191313227del, NC_000002.12:g.191313206_191313227del, NC_000002.12:g.191313207_191313227del, NC_000002.12:g.191313208_191313227del, NC_000002.12:g.191313209_191313227del, NC_000002.12:g.191313210_191313227del, NC_000002.12:g.191313211_191313227del, NC_000002.12:g.191313212_191313227del, NC_000002.12:g.191313213_191313227del, NC_000002.12:g.191313214_191313227del, NC_000002.12:g.191313215_191313227del, NC_000002.12:g.191313216_191313227del, NC_000002.12:g.191313217_191313227del, NC_000002.12:g.191313218_191313227del, NC_000002.12:g.191313219_191313227del, NC_000002.12:g.191313220_191313227del, NC_000002.12:g.191313221_191313227del, NC_000002.12:g.191313222_191313227del, NC_000002.12:g.191313223_191313227del, NC_000002.12:g.191313224_191313227del, NC_000002.12:g.191313225_191313227del, NC_000002.12:g.191313226_191313227del, NC_000002.12:g.191313227del, NC_000002.12:g.191313227dup, NC_000002.12:g.191313226_191313227dup, NC_000002.12:g.191313225_191313227dup, NC_000002.12:g.191313224_191313227dup, NC_000002.12:g.191313223_191313227dup, NC_000002.12:g.191313222_191313227dup, NC_000002.12:g.191313221_191313227dup, NC_000002.12:g.191313220_191313227dup, NC_000002.12:g.191313219_191313227dup, NC_000002.12:g.191313218_191313227dup, NC_000002.12:g.191313217_191313227dup, NC_000002.12:g.191313216_191313227dup, NC_000002.12:g.191313215_191313227dup, NC_000002.12:g.191313214_191313227dup, NC_000002.12:g.191313213_191313227dup, NC_000002.12:g.191313212_191313227dup, NC_000002.12:g.191313211_191313227dup, NC_000002.12:g.191313210_191313227dup, NC_000002.12:g.191313209_191313227dup, NC_000002.12:g.191313207_191313227dup, NC_000002.12:g.191313206_191313227dup, NC_000002.12:g.191313204_191313227dup, NC_000002.12:g.191313202_191313227dup, NC_000002.12:g.191313201_191313227dup, NC_000002.12:g.191313199_191313227dup, NC_000002.12:g.191313198_191313227dup, NC_000002.12:g.191313196_191313227dup, NC_000002.12:g.191313195_191313227dup, NC_000002.12:g.191313193_191313227dup, NC_000002.11:g.192177923_192177953del, NC_000002.11:g.192177930_192177953del, NC_000002.11:g.192177931_192177953del, NC_000002.11:g.192177932_192177953del, NC_000002.11:g.192177933_192177953del, NC_000002.11:g.192177934_192177953del, NC_000002.11:g.192177935_192177953del, NC_000002.11:g.192177936_192177953del, NC_000002.11:g.192177937_192177953del, NC_000002.11:g.192177938_192177953del, NC_000002.11:g.192177939_192177953del, NC_000002.11:g.192177940_192177953del, NC_000002.11:g.192177941_192177953del, NC_000002.11:g.192177942_192177953del, NC_000002.11:g.192177943_192177953del, NC_000002.11:g.192177944_192177953del, NC_000002.11:g.192177945_192177953del, NC_000002.11:g.192177946_192177953del, NC_000002.11:g.192177947_192177953del, NC_000002.11:g.192177948_192177953del, NC_000002.11:g.192177949_192177953del, NC_000002.11:g.192177950_192177953del, NC_000002.11:g.192177951_192177953del, NC_000002.11:g.192177952_192177953del, NC_000002.11:g.192177953del, NC_000002.11:g.192177953dup, NC_000002.11:g.192177952_192177953dup, NC_000002.11:g.192177951_192177953dup, NC_000002.11:g.192177950_192177953dup, NC_000002.11:g.192177949_192177953dup, NC_000002.11:g.192177948_192177953dup, NC_000002.11:g.192177947_192177953dup, NC_000002.11:g.192177946_192177953dup, NC_000002.11:g.192177945_192177953dup, NC_000002.11:g.192177944_192177953dup, NC_000002.11:g.192177943_192177953dup, NC_000002.11:g.192177942_192177953dup, NC_000002.11:g.192177941_192177953dup, NC_000002.11:g.192177940_192177953dup, NC_000002.11:g.192177939_192177953dup, NC_000002.11:g.192177938_192177953dup, NC_000002.11:g.192177937_192177953dup, NC_000002.11:g.192177936_192177953dup, NC_000002.11:g.192177935_192177953dup, NC_000002.11:g.192177933_192177953dup, NC_000002.11:g.192177932_192177953dup, NC_000002.11:g.192177930_192177953dup, NC_000002.11:g.192177928_192177953dup, NC_000002.11:g.192177927_192177953dup, NC_000002.11:g.192177925_192177953dup, NC_000002.11:g.192177924_192177953dup, NC_000002.11:g.192177922_192177953dup, NC_000002.11:g.192177921_192177953dup, NC_000002.11:g.192177919_192177953dup

Select item 149116137115.

rs1491161371 has merged into rs551169413 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 2:191398430 (GRCh38)
2:192263156 (GRCh37)
Canonical SPDI:: NC_000002.12:191398423:CCCCCCCCC:CCCCCC,NC_000002.12:191398423:CCCCCCCCC:CCCCCCC,NC_000002.12:191398423:CCCCCCCCC:CCCCCCCC,NC_000002.12:191398423:CCCCCCCCC:CCCCCCCCCC,NC_000002.12:191398423:CCCCCCCCC:CCCCCCCCCCC,NC_000002.12:191398423:CCCCCCCCC:CCCCCCCCCCCC,NC_000002.12:191398423:CCCCCCCCC:CCCCCCCCCCCCC
Gene:: MYO1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.0894/47 (NorthernSweden)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000002.12:g.191398430_191398432del, NC_000002.12:g.191398431_191398432del, NC_000002.12:g.191398432del, NC_000002.12:g.191398432dup, NC_000002.12:g.191398431_191398432dup, NC_000002.12:g.191398430_191398432dup, NC_000002.12:g.191398429_191398432dup, NC_000002.11:g.192263156_192263158del, NC_000002.11:g.192263157_192263158del, NC_000002.11:g.192263158del, NC_000002.11:g.192263158dup, NC_000002.11:g.192263157_192263158dup, NC_000002.11:g.192263156_192263158dup, NC_000002.11:g.192263155_192263158dup

Select item 149115753616.

rs1491157536 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:191398424 (GRCh38)
2:192263151 (GRCh37)
Canonical SPDI:: NC_000002.12:191398424::A
Gene:: MYO1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000002.12:g.191398424_191398425insA, NC_000002.11:g.192263150_192263151insA

Select item 149114953117.

rs1491149531 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 2:191246550 (GRCh38)
2:192111276 (GRCh37)
Canonical SPDI:: NC_000002.12:191246549:GC:
Gene:: MYO1B (Varview), STAT4 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/1 (GnomAD)
HGVS:: NC_000002.12:g.191246550_191246551del, NC_000002.11:g.192111276_192111277del

Select item 149114434718.

rs1491144347 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:191422120 (GRCh38)
2:192286847 (GRCh37)
Canonical SPDI:: NC_000002.12:191422120:A:AA
Gene:: MYO1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.191422121dup, NC_000002.11:g.192286847dup

Select item 149113226119.

rs1491132261 has merged into rs796198342 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTGTTGGTGGGTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTATGTGGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTGGTGGGGGGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTGGTGGGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTGGTTGGTGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTGTGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGGGGGGGGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGTGGTGGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTAGGGGGGATGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTAGGGGGGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTAGGTGGGGTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTATGTGGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTGGGGGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTAGGTGGGGGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTAGGTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTATTGGGGTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTGGTGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGGGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:191397138 (GRCh38)
2:192261864 (GRCh37)
Canonical SPDI:: NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGGTGGGTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGTGGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTGGTGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGGGGGGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGGTGGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGGGGGGATGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGGGGGGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGGTGGGGTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGTGGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGGGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGGTGGGGGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGGTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTGGGGTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGGGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:191397128:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MYO1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.0377/8 (NorthernSweden)
HGVS:: NC_000002.12:g.191397138_191397157del, NC_000002.12:g.191397139_191397157del, NC_000002.12:g.191397140_191397157del, NC_000002.12:g.191397141_191397157del, NC_000002.12:g.191397142_191397157del, NC_000002.12:g.191397143_191397157del, NC_000002.12:g.191397144_191397157del, NC_000002.12:g.191397145_191397157del, NC_000002.12:g.191397146_191397157del, NC_000002.12:g.191397147_191397157del, NC_000002.12:g.191397148_191397157del, NC_000002.12:g.191397149_191397157del, NC_000002.12:g.191397150_191397157del, NC_000002.12:g.191397151_191397157del, NC_000002.12:g.191397152_191397157del, NC_000002.12:g.191397153_191397157del, NC_000002.12:g.191397154_191397157del, NC_000002.12:g.191397155_191397157del, NC_000002.12:g.191397156_191397157del, NC_000002.12:g.191397157del, NC_000002.12:g.191397157dup, NC_000002.12:g.191397129_191397157T[30]GTTGGTGGGTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397156_191397157dup, NC_000002.12:g.191397129_191397157T[31]ATGTGGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[31]GGTGGGGGGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[31]GGTGGGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[31]GGTTGGTGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[31]GT[2]GGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397155_191397157dup, NC_000002.12:g.191397129_191397157T[32]G[9]TATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[32]GGTGGGGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[32]GGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[32]GTG[2]GGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397154_191397157dup, NC_000002.12:g.191397129_191397157T[33]AGGGGGGATGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[33]AGGGGGGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[33]AGGTGGGGTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[33]ATGTGGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[33]G[7]TGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397153_191397157dup, NC_000002.12:g.191397129_191397157T[34]AGGTGGGGGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[34]AGGTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[34]ATTGGGGTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397152_191397157dup, NC_000002.12:g.191397129_191397157T[35]GGTGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397151_191397157dup, NC_000002.12:g.191397150_191397157dup, NC_000002.12:g.191397129_191397157T[37]G[4]TGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[37]GGTGGGGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397129_191397157T[37]GGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397149_191397157dup, NC_000002.12:g.191397148_191397157dup, NC_000002.12:g.191397129_191397157T[39]G[6]TGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397147_191397157dup, NC_000002.12:g.191397146_191397157dup, NC_000002.12:g.191397145_191397157dup, NC_000002.12:g.191397144_191397157dup, NC_000002.12:g.191397129_191397157T[43]GGTGGGGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.191397142_191397157dup, NC_000002.12:g.191397141_191397157dup, NC_000002.12:g.191397131_191397157dup, NC_000002.11:g.192261864_192261883del, NC_000002.11:g.192261865_192261883del, NC_000002.11:g.192261866_192261883del, NC_000002.11:g.192261867_192261883del, NC_000002.11:g.192261868_192261883del, NC_000002.11:g.192261869_192261883del, NC_000002.11:g.192261870_192261883del, NC_000002.11:g.192261871_192261883del, NC_000002.11:g.192261872_192261883del, NC_000002.11:g.192261873_192261883del, NC_000002.11:g.192261874_192261883del, NC_000002.11:g.192261875_192261883del, NC_000002.11:g.192261876_192261883del, NC_000002.11:g.192261877_192261883del, NC_000002.11:g.192261878_192261883del, NC_000002.11:g.192261879_192261883del, NC_000002.11:g.192261880_192261883del, NC_000002.11:g.192261881_192261883del, NC_000002.11:g.192261882_192261883del, NC_000002.11:g.192261883del, NC_000002.11:g.192261883dup, NC_000002.11:g.192261855_192261883T[30]GTTGGTGGGTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261882_192261883dup, NC_000002.11:g.192261855_192261883T[31]ATGTGGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[31]GGTGGGGGGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[31]GGTGGGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[31]GGTTGGTGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[31]GT[2]GGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261881_192261883dup, NC_000002.11:g.192261855_192261883T[32]G[9]TATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[32]GGTGGGGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[32]GGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[32]GTG[2]GGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261880_192261883dup, NC_000002.11:g.192261855_192261883T[33]AGGGGGGATGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[33]AGGGGGGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[33]AGGTGGGGTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[33]ATGTGGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[33]G[7]TGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261879_192261883dup, NC_000002.11:g.192261855_192261883T[34]AGGTGGGGGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[34]AGGTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[34]ATTGGGGTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261878_192261883dup, NC_000002.11:g.192261855_192261883T[35]GGTGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261877_192261883dup, NC_000002.11:g.192261876_192261883dup, NC_000002.11:g.192261855_192261883T[37]G[4]TGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[37]GGTGGGGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261855_192261883T[37]GGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261875_192261883dup, NC_000002.11:g.192261874_192261883dup, NC_000002.11:g.192261855_192261883T[39]G[6]TGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261873_192261883dup, NC_000002.11:g.192261872_192261883dup, NC_000002.11:g.192261871_192261883dup, NC_000002.11:g.192261870_192261883dup, NC_000002.11:g.192261855_192261883T[43]GGTGGGGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.192261868_192261883dup, NC_000002.11:g.192261867_192261883dup, NC_000002.11:g.192261857_192261883dup

Select item 149112631620.

rs1491126316 [Homo sapiens]

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

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Global MAF

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