Links from Gene
Items: 1 to 20 of 1000
1.
rs1491336005 has merged into rs3037959 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:82158509
(GRCh38)
16:82192114
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82158498:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.425/17
(GENOME_DK)
- HGVS:
NC_000016.10:g.82158509_82158523del, NC_000016.10:g.82158510_82158523del, NC_000016.10:g.82158511_82158523del, NC_000016.10:g.82158512_82158523del, NC_000016.10:g.82158513_82158523del, NC_000016.10:g.82158514_82158523del, NC_000016.10:g.82158515_82158523del, NC_000016.10:g.82158516_82158523del, NC_000016.10:g.82158517_82158523del, NC_000016.10:g.82158518_82158523del, NC_000016.10:g.82158519_82158523del, NC_000016.10:g.82158520_82158523del, NC_000016.10:g.82158521_82158523del, NC_000016.10:g.82158522_82158523del, NC_000016.10:g.82158523del, NC_000016.10:g.82158523dup, NC_000016.10:g.82158522_82158523dup, NC_000016.10:g.82158521_82158523dup, NC_000016.10:g.82158520_82158523dup, NC_000016.10:g.82158519_82158523dup, NC_000016.10:g.82158518_82158523dup, NC_000016.10:g.82158516_82158523dup, NC_000016.10:g.82158514_82158523dup, NC_000016.9:g.82192114_82192128del, NC_000016.9:g.82192115_82192128del, NC_000016.9:g.82192116_82192128del, NC_000016.9:g.82192117_82192128del, NC_000016.9:g.82192118_82192128del, NC_000016.9:g.82192119_82192128del, NC_000016.9:g.82192120_82192128del, NC_000016.9:g.82192121_82192128del, NC_000016.9:g.82192122_82192128del, NC_000016.9:g.82192123_82192128del, NC_000016.9:g.82192124_82192128del, NC_000016.9:g.82192125_82192128del, NC_000016.9:g.82192126_82192128del, NC_000016.9:g.82192127_82192128del, NC_000016.9:g.82192128del, NC_000016.9:g.82192128dup, NC_000016.9:g.82192127_82192128dup, NC_000016.9:g.82192126_82192128dup, NC_000016.9:g.82192125_82192128dup, NC_000016.9:g.82192124_82192128dup, NC_000016.9:g.82192123_82192128dup, NC_000016.9:g.82192121_82192128dup, NC_000016.9:g.82192119_82192128dup
2.
rs1491183629 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 16:82158498
(GRCh38)
16:82192103
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82158497:CA:
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01568/186
(
ALFA)
-=0.00548/154
(TOMMO)
- HGVS:
3.
rs1491073530 has merged into rs945085704 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT,TTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:82165122
(GRCh38)
16:82198727
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82165121:TTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:82165121:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:82165121:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:82165121:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:82165121:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:82165121:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:82165121:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:82165121:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:82165121:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:82165121:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.002364/4
(Korea1K)
- HGVS:
NC_000016.10:g.82165132del, NC_000016.10:g.82165132dup, NC_000016.10:g.82165129_82165132dup, NC_000016.10:g.82165125_82165132dup, NC_000016.10:g.82165124_82165132dup, NC_000016.10:g.82165132_82165133insTTTTTTTTTTTTT, NC_000016.10:g.82165132_82165133insTTTTTTTTTTTTTT, NC_000016.10:g.82165132_82165133insTTTTTTTTTTTTTTT, NC_000016.10:g.82165132_82165133insTTTTTTTTTTTTTTTT, NC_000016.10:g.82165132_82165133insTTTTTTTTTTTTTTTTTT, NC_000016.9:g.82198737del, NC_000016.9:g.82198737dup, NC_000016.9:g.82198734_82198737dup, NC_000016.9:g.82198730_82198737dup, NC_000016.9:g.82198729_82198737dup, NC_000016.9:g.82198737_82198738insTTTTTTTTTTTTT, NC_000016.9:g.82198737_82198738insTTTTTTTTTTTTTT, NC_000016.9:g.82198737_82198738insTTTTTTTTTTTTTTT, NC_000016.9:g.82198737_82198738insTTTTTTTTTTTTTTTT, NC_000016.9:g.82198737_82198738insTTTTTTTTTTTTTTTTTT
4.
rs1491028160 has merged into rs386385245 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAATAAATAAATAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAATAATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAATATAAATATATATATATATATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:82170961
(GRCh38)
16:82204566
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAATAAATAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:82170952:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATAAATATATATATATATATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.82170961_82170984del, NC_000016.10:g.82170962_82170984del, NC_000016.10:g.82170963_82170984del, NC_000016.10:g.82170964_82170984del, NC_000016.10:g.82170965_82170984del, NC_000016.10:g.82170966_82170984del, NC_000016.10:g.82170967_82170984del, NC_000016.10:g.82170968_82170984del, NC_000016.10:g.82170969_82170984del, NC_000016.10:g.82170970_82170984del, NC_000016.10:g.82170971_82170984del, NC_000016.10:g.82170972_82170984del, NC_000016.10:g.82170973_82170984del, NC_000016.10:g.82170974_82170984del, NC_000016.10:g.82170975_82170984del, NC_000016.10:g.82170976_82170984del, NC_000016.10:g.82170977_82170984del, NC_000016.10:g.82170978_82170984del, NC_000016.10:g.82170979_82170984del, NC_000016.10:g.82170980_82170984del, NC_000016.10:g.82170981_82170984del, NC_000016.10:g.82170982_82170984del, NC_000016.10:g.82170983_82170984del, NC_000016.10:g.82170984del, NC_000016.10:g.82170984dup, NC_000016.10:g.82170983_82170984dup, NC_000016.10:g.82170982_82170984dup, NC_000016.10:g.82170981_82170984dup, NC_000016.10:g.82170980_82170984dup, NC_000016.10:g.82170979_82170984dup, NC_000016.10:g.82170978_82170984dup, NC_000016.10:g.82170977_82170984dup, NC_000016.10:g.82170976_82170984dup, NC_000016.10:g.82170975_82170984dup, NC_000016.10:g.82170974_82170984dup, NC_000016.10:g.82170973_82170984dup, NC_000016.10:g.82170972_82170984dup, NC_000016.10:g.82170971_82170984dup, NC_000016.10:g.82170970_82170984dup, NC_000016.10:g.82170969_82170984dup, NC_000016.10:g.82170968_82170984dup, NC_000016.10:g.82170967_82170984dup, NC_000016.10:g.82170966_82170984dup, NC_000016.10:g.82170965_82170984dup, NC_000016.10:g.82170964_82170984dup, NC_000016.10:g.82170962_82170984dup, NC_000016.10:g.82170984_82170985insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.82170953_82170984A[36]TAAA[3]A[5]TAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.82170953_82170984A[35]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.82170953_82170984A[33]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.82170953_82170984A[33]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.82170953_82170984A[33]TAATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.82170953_82170984A[33]TA[2]AATATATATATATATATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.82204566_82204589del, NC_000016.9:g.82204567_82204589del, NC_000016.9:g.82204568_82204589del, NC_000016.9:g.82204569_82204589del, NC_000016.9:g.82204570_82204589del, NC_000016.9:g.82204571_82204589del, NC_000016.9:g.82204572_82204589del, NC_000016.9:g.82204573_82204589del, NC_000016.9:g.82204574_82204589del, NC_000016.9:g.82204575_82204589del, NC_000016.9:g.82204576_82204589del, NC_000016.9:g.82204577_82204589del, NC_000016.9:g.82204578_82204589del, NC_000016.9:g.82204579_82204589del, NC_000016.9:g.82204580_82204589del, NC_000016.9:g.82204581_82204589del, NC_000016.9:g.82204582_82204589del, NC_000016.9:g.82204583_82204589del, NC_000016.9:g.82204584_82204589del, NC_000016.9:g.82204585_82204589del, NC_000016.9:g.82204586_82204589del, NC_000016.9:g.82204587_82204589del, NC_000016.9:g.82204588_82204589del, NC_000016.9:g.82204589del, NC_000016.9:g.82204589dup, NC_000016.9:g.82204588_82204589dup, NC_000016.9:g.82204587_82204589dup, NC_000016.9:g.82204586_82204589dup, NC_000016.9:g.82204585_82204589dup, NC_000016.9:g.82204584_82204589dup, NC_000016.9:g.82204583_82204589dup, NC_000016.9:g.82204582_82204589dup, NC_000016.9:g.82204581_82204589dup, NC_000016.9:g.82204580_82204589dup, NC_000016.9:g.82204579_82204589dup, NC_000016.9:g.82204578_82204589dup, NC_000016.9:g.82204577_82204589dup, NC_000016.9:g.82204576_82204589dup, NC_000016.9:g.82204575_82204589dup, NC_000016.9:g.82204574_82204589dup, NC_000016.9:g.82204573_82204589dup, NC_000016.9:g.82204572_82204589dup, NC_000016.9:g.82204571_82204589dup, NC_000016.9:g.82204570_82204589dup, NC_000016.9:g.82204569_82204589dup, NC_000016.9:g.82204567_82204589dup, NC_000016.9:g.82204589_82204590insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.82204558_82204589A[36]TAAA[3]A[5]TAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.82204558_82204589A[35]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.82204558_82204589A[33]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.82204558_82204589A[33]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.82204558_82204589A[33]TAATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.82204558_82204589A[33]TA[2]AATATATATATATATATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
7.
rs1490731779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:82151103
(GRCh38)
16:82184708
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82151102:C:T
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1490721537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:82162371
(GRCh38)
16:82195976
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82162370:T:C
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
9.
rs1490696144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:82161625
(GRCh38)
16:82195230
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82161624:T:G
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490662291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:82151766
(GRCh38)
16:82185371
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82151765:T:C
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490535624 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTA>-
[Show Flanks]
- Chromosome:
- 16:82152004
(GRCh38)
16:82185609
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82152001:TAATTA:TA
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490266722 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTTT>-
[Show Flanks]
- Chromosome:
- 16:82151827
(GRCh38)
16:82185432
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82151823:TTTCTTTT:TTT
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490235933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:82170424
(GRCh38)
16:82204029
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82170423:A:G
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
15.
rs1490017429 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:82166435
(GRCh38)
16:82200040
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82166434:G:C
- Gene:
- MPHOSPH6 (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:
16.
rs1489951069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:82165808
(GRCh38)
16:82199413
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82165807:A:G
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000038/2
(GnomAD)
- HGVS:
17.
rs1489802502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:82170799
(GRCh38)
16:82204404
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82170798:G:C
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489758877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:82158073
(GRCh38)
16:82191678
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82158072:A:G
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1489707588 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 16:82165679
(GRCh38)
16:82199284
(GRCh37)
- Canonical SPDI:
- NC_000016.10:82165675:TGTGT:TGT
- Gene:
- MPHOSPH6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS: