SNP Links for Gene (Select 100132967) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 26

<< First< Prev

Page of 2

Next >Last >>

Select item 14560490901.

rs1456049090 has merged into rs782621321 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCT>- [Show Flanks]
Chromosome:: X:154572106 (GRCh38)
X:153800337 (GRCh37)
Canonical SPDI:: NC_000023.11:154572089:TCCTTCCTTCCTTCCTTCCT:TCCTTCCTTCCTTCCT
Gene:: FAM223A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTTCCTTCCTTCCT=0.00051/2 (ALFA)
-=0.04082/432 (TOMMO)
HGVS:: NC_000023.11:g.154572090TCCT[4], NW_003871103.3:g.2006069TCCT[4], NC_000023.10:g.153800321TCCT[4]

Select item 14430761512.

rs1443076151 has merged into rs782339517 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTTCCTT>-,CCTT,CCTTCCTTCCTT [Show Flanks]
Chromosome:: X:154572372 (GRCh38)
X:153800633 (GRCh37)
Canonical SPDI:: NC_000023.11:154572347:CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT:CCTTCCTTCCTTCCTTCCTTCCTT,NC_000023.11:154572347:CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT:CCTTCCTTCCTTCCTTCCTTCCTTCCTT,NC_000023.11:154572347:CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT:CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT
Gene:: FAM223A (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTTCCTTCCTTCCTTCCTTCCTTCCTT=0.0034/13 (ALFA)
TCCTT=0.0175/66 (1000Genomes)
HGVS:: NC_000023.11:g.154572348CCTT[6], NC_000023.11:g.154572348CCTT[7], NC_000023.11:g.154572348CCTT[9], NW_003871103.3:g.2006327CCTT[6], NW_003871103.3:g.2006327CCTT[7], NW_003871103.3:g.2006327CCTT[9], NC_000023.10:g.153800609C>T, NC_000023.10:g.153800609_153800616del, NC_000023.10:g.153800585CCCT[6], NC_000023.10:g.153800609delinsTCCTT

Select item 13945343113.

rs1394534311 has merged into rs1376698772 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCTCCCT>-,CCCT [Show Flanks]
Chromosome:: X:154572343 (GRCh38)
X:153800608 (GRCh37)
Canonical SPDI:: NC_000023.11:154572315:CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT:CCTCCCTCCCTCCCTCCCTCCCTCCCT,NC_000023.11:154572315:CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT:CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT
Gene:: FAM223A (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.154572319CCCT[6], NC_000023.11:g.154572319CCCT[7], NW_003871103.3:g.2006298CCCT[6], NW_003871103.3:g.2006298CCCT[7], NC_000023.10:g.153800581T>C, NC_000023.10:g.153800573TCCTCCCT[1], NC_000023.10:g.153800581_153800584del

Select item 13766987724.

rs1376698772 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCTCCCT>-,CCCT [Show Flanks]
Chromosome:: X:154572343 (GRCh38)
X:153800608 (GRCh37)
Canonical SPDI:: NC_000023.11:154572315:CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT:CCTCCCTCCCTCCCTCCCTCCCTCCCT,NC_000023.11:154572315:CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT:CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT
Gene:: FAM223A (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.154572319CCCT[6], NC_000023.11:g.154572319CCCT[7], NW_003871103.3:g.2006298CCCT[6], NW_003871103.3:g.2006298CCCT[7], NC_000023.10:g.153800581T>C, NC_000023.10:g.153800573TCCTCCCT[1], NC_000023.10:g.153800581_153800584del

Select item 13466118095.

rs1346611809 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGA [Show Flanks]
Chromosome:: X:154570770 (GRCh38)
X:153799002 (GRCh37)
Canonical SPDI:: NC_000023.11:154570770:A:ATGA
Gene:: FAM223A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000023.11:g.154570771_154570772insTGA, NW_003871103.3:g.2004750_2004751insTGA, NC_000023.10:g.153799002_153799003insTGA

Select item 13247077026.

rs1324707702 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTCCTCTTCCTTTT [Show Flanks]
Chromosome:: X:154572276 (GRCh38)
X:153800510 (GRCh37)
Canonical SPDI:: NC_000023.11:154572276::TTCCTCTTCCTTTT
Gene:: FAM223A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000023.11:g.154572276_154572277insTTCCTCTTCCTTTT, NW_003871103.3:g.2006255_2006256insTTCCTCTTCCTTTT, NC_000023.10:g.153800509_153800510insTTCCTCTTCCTTTT

Select item 8689890447.

rs868989044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154570698 (GRCh38)
X:153798929 (GRCh37)
Canonical SPDI:: NC_000023.11:154570697:C:T
Gene:: FAM223A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00008/1 (TOMMO)
T=0.01852/2 (Qatari)
HGVS:: NC_000023.11:g.154570698C>T, NW_003871103.3:g.2004677C>T, NC_000023.10:g.153798929C>T

Select item 8689878408.

rs868987840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154570774 (GRCh38)
X:153799008 (GRCh37)
Canonical SPDI:: NC_000023.11:154570773:T:C
Gene:: FAM223A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.074/8 (Qatari)
HGVS:: NC_000023.11:g.154570774T>C, NW_003871103.3:g.2004753T>C, NC_000023.10:g.153799008T>C

Select item 8689839219.

rs868983921 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154572167 (GRCh38)
X:153800398 (GRCh37)
Canonical SPDI:: NC_000023.11:154572166:T:C
Gene:: FAM223A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.02/2 (Qatari)
HGVS:: NC_000023.11:g.154572167T>C, NW_003871103.3:g.2006146T>C, NC_000023.10:g.153800398T>C

Select item 86896473410.

rs868964734 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:154570773 (GRCh38)
X:153799007 (GRCh37)
Canonical SPDI:: NC_000023.11:154570772:A:C
Gene:: FAM223A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.13/14 (Qatari)
HGVS:: NC_000023.11:g.154570773A>C, NW_003871103.3:g.2004752A>C, NC_000023.10:g.153799007A>C

Select item 86894765911.

rs868947659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154572313 (GRCh38)
X:153800571 (GRCh37)
Canonical SPDI:: NC_000023.11:154572312:C:T
Gene:: FAM223A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.154572313C>T, NW_003871103.3:g.2006292C>T, NC_000023.10:g.153800571T>C

Select item 86893401912.

rs868934019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154570611 (GRCh38)
X:153798842 (GRCh37)
Canonical SPDI:: NC_000023.11:154570610:G:A
Gene:: FAM223A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.019/2 (Qatari)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000023.11:g.154570611G>A, NW_003871103.3:g.2004590G>A, NC_000023.10:g.153798842G>A

Select item 86891122013.

rs868911220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:154570772 (GRCh38)
X:153799006 (GRCh37)
Canonical SPDI:: NC_000023.11:154570771:G:C
Gene:: FAM223A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.139/15 (Qatari)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.154570772G>C, NW_003871103.3:g.2004751G>C, NC_000023.10:g.153799006G>C

Select item 86890619514.

rs868906195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154570775 (GRCh38)
X:153799009 (GRCh37)
Canonical SPDI:: NC_000023.11:154570774:C:T
Gene:: FAM223A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.037/4 (Qatari)
HGVS:: NC_000023.11:g.154570775C>T, NW_003871103.3:g.2004754C>T, NC_000023.10:g.153799009C>T

Select item 78267769215.

rs782677692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154572323 (GRCh38)
X:153800581 (GRCh37)
Canonical SPDI:: NC_000023.11:154572322:C:T
Gene:: FAM223A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.154572323C>T, NW_003871103.3:g.2006302C>T, NC_000023.10:g.153800581T>C

Select item 78263131916.

rs782631319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154569900 (GRCh38)
X:153798131 (GRCh37)
Canonical SPDI:: NC_000023.11:154569899:T:C
Gene:: FAM223A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.154569900T>C, NW_003871103.3:g.2003879T>C, NC_000023.10:g.153798131C>T

Select item 78249626317.

rs782496263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154570719 (GRCh38)
X:153798950 (GRCh37)
Canonical SPDI:: NC_000023.11:154570718:C:T
Gene:: FAM223A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.0003/1 (1000Genomes)
HGVS:: NC_000023.11:g.154570719C>T, NW_003871103.3:g.2004698C>T, NC_000023.10:g.153798950C>T

Select item 78233951718.

rs782339517 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTTCCTT>-,CCTT,CCTTCCTTCCTT [Show Flanks]
Chromosome:: X:154572372 (GRCh38)
X:153800633 (GRCh37)
Canonical SPDI:: NC_000023.11:154572347:CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT:CCTTCCTTCCTTCCTTCCTTCCTT,NC_000023.11:154572347:CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT:CCTTCCTTCCTTCCTTCCTTCCTTCCTT,NC_000023.11:154572347:CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT:CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT
Gene:: FAM223A (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTTCCTTCCTTCCTTCCTTCCTTCCTT=0.0034/13 (ALFA)
TCCTT=0.0175/66 (1000Genomes)
HGVS:: NC_000023.11:g.154572348CCTT[6], NC_000023.11:g.154572348CCTT[7], NC_000023.11:g.154572348CCTT[9], NW_003871103.3:g.2006327CCTT[6], NW_003871103.3:g.2006327CCTT[7], NW_003871103.3:g.2006327CCTT[9], NC_000023.10:g.153800609C>T, NC_000023.10:g.153800609_153800616del, NC_000023.10:g.153800585CCCT[6], NC_000023.10:g.153800609delinsTCCTT

Select item 78230705619.

rs782307056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:154570765 (GRCh38)
X:153798996 (GRCh37)
Canonical SPDI:: NC_000023.11:154570764:C:A
Gene:: FAM223A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.05475/233 (ALFA)
A=0.01102/32 (KOREAN)
A=0.02199/83 (1000Genomes)
A=0.06605/840 (TOMMO)
C=0.3125/5 (SGDP_PRJ)
HGVS:: NC_000023.11:g.154570765C>A, NW_003871103.3:g.2004744C>A, NC_000023.10:g.153798996C>A

Select item 78225904320.

rs782259043 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: X:154571243 (GRCh38)
X:153799477 (GRCh37)
Canonical SPDI:: NC_000023.11:154571224:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:154571224:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154571224:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FAM223A (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTTTTT=0.0037/8 (ALFA)
-=0.4434/1674 (1000Genomes)
HGVS:: NC_000023.11:g.154571243_154571250del, NC_000023.11:g.154571250del, NC_000023.11:g.154571250dup, NW_003871103.3:g.2005222_2005229del, NW_003871103.3:g.2005229del, NW_003871103.3:g.2005229dup, NC_000023.10:g.153799479_153799481dup, NC_000023.10:g.153799477_153799481del, NC_000023.10:g.153799480_153799481dup, NC_000023.10:g.153799478_153799481dup