SNP Links for Nucleotide (Select 974005649) - SNP

Links from Nucleotide

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Select item 14915849821.

rs1491584982 [Homo sapiens]

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

Select item 14915731662.

rs1491573166 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 3:196060827 (GRCh38)
3:195787698 (GRCh37)
Canonical SPDI:: NC_000003.12:196060826:TC:
Gene:: TFRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00189/31 (TOMMO)
HGVS:: NC_000003.12:g.196060827_196060828del, NC_000003.11:g.195787698_195787699del, NG_046395.1:g.26334_26335del

Select item 14915716963.

rs1491571696 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA,AC [Show Flanks]
Chromosome:: 3:196060827 (GRCh38)
3:195787699 (GRCh37)
Canonical SPDI:: NC_000003.12:196060827::AA,NC_000003.12:196060827::AC
Gene:: TFRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.196060827_196060828insAA, NC_000003.12:g.196060827_196060828insAC, NC_000003.11:g.195787698_195787699insAA, NC_000003.11:g.195787698_195787699insAC, NG_046395.1:g.26334_26335insTT, NG_046395.1:g.26334_26335insGT

Select item 14915231564.

rs1491523156 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:196057781 (GRCh38)
3:195784652 (GRCh37)
Canonical SPDI:: NC_000003.12:196057780:CA:
Gene:: TFRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.196057781_196057782del, NC_000003.11:g.195784652_195784653del, NG_046395.1:g.29380_29381del

Select item 14915016945.

rs1491501694 has merged into rs150142146 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 3:196062229 (GRCh38)
3:195789100 (GRCh37)
Canonical SPDI:: NC_000003.12:196062217:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:196062217:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:196062217:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:196062217:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:196062217:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:196062217:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:196062217:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:196062217:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: TFRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.3367/198 (NorthernSweden)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000003.12:g.196062229_196062231del, NC_000003.12:g.196062230_196062231del, NC_000003.12:g.196062231del, NC_000003.12:g.196062231dup, NC_000003.12:g.196062230_196062231dup, NC_000003.12:g.196062229_196062231dup, NC_000003.12:g.196062226_196062231dup, NC_000003.12:g.196062224_196062231dup, NC_000003.11:g.195789100_195789102del, NC_000003.11:g.195789101_195789102del, NC_000003.11:g.195789102del, NC_000003.11:g.195789102dup, NC_000003.11:g.195789101_195789102dup, NC_000003.11:g.195789100_195789102dup, NC_000003.11:g.195789097_195789102dup, NC_000003.11:g.195789095_195789102dup, NG_046395.1:g.24942_24944del, NG_046395.1:g.24943_24944del, NG_046395.1:g.24944del, NG_046395.1:g.24944dup, NG_046395.1:g.24943_24944dup, NG_046395.1:g.24942_24944dup, NG_046395.1:g.24939_24944dup, NG_046395.1:g.24937_24944dup

Select item 14914714666.

rs1491471466 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:196069244 (GRCh38)
3:195796116 (GRCh37)
Canonical SPDI:: NC_000003.12:196069244:A:AA
Gene:: TFRC (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_000003.12:g.196069245dup, NC_000003.11:g.195796116dup, NG_046395.1:g.17917dup

Select item 14914646977.

rs1491464697 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:196057347 (GRCh38)
3:195784218 (GRCh37)
Canonical SPDI:: NC_000003.12:196057346:CT:
Gene:: TFRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.196057347_196057348del, NC_000003.11:g.195784218_195784219del, NG_046395.1:g.29814_29815del

Select item 14914452488.

rs1491445248 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:196075086 (GRCh38)
3:195801957 (GRCh37)
Canonical SPDI:: NC_000003.12:196075082:TATAT:TAT
Gene:: TFRC (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
-=0.000031/4 (GnomAD)
-=0.000087/23 (TOPMED)
-=0.002973/50 (TOMMO)
-=0.003275/6 (Korea1K)
HGVS:: NC_000003.12:g.196075084AT[1], NC_000003.11:g.195801955AT[1], NG_046395.1:g.12076TA[1]

Select item 14914126419.

rs1491412641 [Homo sapiens]

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

Select item 149139583110.

rs1491395831 has merged into rs766511442 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:196084399 (GRCh38)
3:195811270 (GRCh37)
Canonical SPDI:: NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000003.12:g.196084399_196084409del, NC_000003.12:g.196084400_196084409del, NC_000003.12:g.196084401_196084409del, NC_000003.12:g.196084402_196084409del, NC_000003.12:g.196084403_196084409del, NC_000003.12:g.196084405_196084409del, NC_000003.12:g.196084406_196084409del, NC_000003.12:g.196084407_196084409del, NC_000003.12:g.196084408_196084409del, NC_000003.12:g.196084409del, NC_000003.12:g.196084409dup, NC_000003.12:g.196084408_196084409dup, NC_000003.12:g.196084407_196084409dup, NC_000003.12:g.196084406_196084409dup, NC_000003.12:g.196084405_196084409dup, NC_000003.12:g.196084404_196084409dup, NC_000003.12:g.196084402_196084409dup, NC_000003.12:g.196084401_196084409dup, NC_000003.12:g.196084399_196084409dup, NC_000003.12:g.196084398_196084409dup, NC_000003.12:g.196084394_196084409dup, NC_000003.11:g.195811270_195811280del, NC_000003.11:g.195811271_195811280del, NC_000003.11:g.195811272_195811280del, NC_000003.11:g.195811273_195811280del, NC_000003.11:g.195811274_195811280del, NC_000003.11:g.195811276_195811280del, NC_000003.11:g.195811277_195811280del, NC_000003.11:g.195811278_195811280del, NC_000003.11:g.195811279_195811280del, NC_000003.11:g.195811280del, NC_000003.11:g.195811280dup, NC_000003.11:g.195811279_195811280dup, NC_000003.11:g.195811278_195811280dup, NC_000003.11:g.195811277_195811280dup, NC_000003.11:g.195811276_195811280dup, NC_000003.11:g.195811275_195811280dup, NC_000003.11:g.195811273_195811280dup, NC_000003.11:g.195811272_195811280dup, NC_000003.11:g.195811270_195811280dup, NC_000003.11:g.195811269_195811280dup, NC_000003.11:g.195811265_195811280dup, NG_046395.1:g.2760_2770del, NG_046395.1:g.2761_2770del, NG_046395.1:g.2762_2770del, NG_046395.1:g.2763_2770del, NG_046395.1:g.2764_2770del, NG_046395.1:g.2766_2770del, NG_046395.1:g.2767_2770del, NG_046395.1:g.2768_2770del, NG_046395.1:g.2769_2770del, NG_046395.1:g.2770del, NG_046395.1:g.2770dup, NG_046395.1:g.2769_2770dup, NG_046395.1:g.2768_2770dup, NG_046395.1:g.2767_2770dup, NG_046395.1:g.2766_2770dup, NG_046395.1:g.2765_2770dup, NG_046395.1:g.2763_2770dup, NG_046395.1:g.2762_2770dup, NG_046395.1:g.2760_2770dup, NG_046395.1:g.2759_2770dup, NG_046395.1:g.2755_2770dup

Select item 149131343211.

rs1491313432 has merged into rs766511442 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:196084399 (GRCh38)
3:195811270 (GRCh37)
Canonical SPDI:: NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196084391:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000003.12:g.196084399_196084409del, NC_000003.12:g.196084400_196084409del, NC_000003.12:g.196084401_196084409del, NC_000003.12:g.196084402_196084409del, NC_000003.12:g.196084403_196084409del, NC_000003.12:g.196084405_196084409del, NC_000003.12:g.196084406_196084409del, NC_000003.12:g.196084407_196084409del, NC_000003.12:g.196084408_196084409del, NC_000003.12:g.196084409del, NC_000003.12:g.196084409dup, NC_000003.12:g.196084408_196084409dup, NC_000003.12:g.196084407_196084409dup, NC_000003.12:g.196084406_196084409dup, NC_000003.12:g.196084405_196084409dup, NC_000003.12:g.196084404_196084409dup, NC_000003.12:g.196084402_196084409dup, NC_000003.12:g.196084401_196084409dup, NC_000003.12:g.196084399_196084409dup, NC_000003.12:g.196084398_196084409dup, NC_000003.12:g.196084394_196084409dup, NC_000003.11:g.195811270_195811280del, NC_000003.11:g.195811271_195811280del, NC_000003.11:g.195811272_195811280del, NC_000003.11:g.195811273_195811280del, NC_000003.11:g.195811274_195811280del, NC_000003.11:g.195811276_195811280del, NC_000003.11:g.195811277_195811280del, NC_000003.11:g.195811278_195811280del, NC_000003.11:g.195811279_195811280del, NC_000003.11:g.195811280del, NC_000003.11:g.195811280dup, NC_000003.11:g.195811279_195811280dup, NC_000003.11:g.195811278_195811280dup, NC_000003.11:g.195811277_195811280dup, NC_000003.11:g.195811276_195811280dup, NC_000003.11:g.195811275_195811280dup, NC_000003.11:g.195811273_195811280dup, NC_000003.11:g.195811272_195811280dup, NC_000003.11:g.195811270_195811280dup, NC_000003.11:g.195811269_195811280dup, NC_000003.11:g.195811265_195811280dup, NG_046395.1:g.2760_2770del, NG_046395.1:g.2761_2770del, NG_046395.1:g.2762_2770del, NG_046395.1:g.2763_2770del, NG_046395.1:g.2764_2770del, NG_046395.1:g.2766_2770del, NG_046395.1:g.2767_2770del, NG_046395.1:g.2768_2770del, NG_046395.1:g.2769_2770del, NG_046395.1:g.2770del, NG_046395.1:g.2770dup, NG_046395.1:g.2769_2770dup, NG_046395.1:g.2768_2770dup, NG_046395.1:g.2767_2770dup, NG_046395.1:g.2766_2770dup, NG_046395.1:g.2765_2770dup, NG_046395.1:g.2763_2770dup, NG_046395.1:g.2762_2770dup, NG_046395.1:g.2760_2770dup, NG_046395.1:g.2759_2770dup, NG_046395.1:g.2755_2770dup

Select item 149126357412.

rs1491263574 has merged into rs56723183 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:196073046 (GRCh38)
3:195799917 (GRCh37)
Canonical SPDI:: NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196073036:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TFRC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.196073046_196073060del, NC_000003.12:g.196073049_196073060del, NC_000003.12:g.196073052_196073060del, NC_000003.12:g.196073053_196073060del, NC_000003.12:g.196073054_196073060del, NC_000003.12:g.196073055_196073060del, NC_000003.12:g.196073056_196073060del, NC_000003.12:g.196073057_196073060del, NC_000003.12:g.196073058_196073060del, NC_000003.12:g.196073059_196073060del, NC_000003.12:g.196073060del, NC_000003.12:g.196073060dup, NC_000003.12:g.196073059_196073060dup, NC_000003.12:g.196073053_196073060dup, NC_000003.12:g.196073051_196073060dup, NC_000003.12:g.196073050_196073060dup, NC_000003.12:g.196073042_196073060dup, NC_000003.11:g.195799917_195799931del, NC_000003.11:g.195799920_195799931del, NC_000003.11:g.195799923_195799931del, NC_000003.11:g.195799924_195799931del, NC_000003.11:g.195799925_195799931del, NC_000003.11:g.195799926_195799931del, NC_000003.11:g.195799927_195799931del, NC_000003.11:g.195799928_195799931del, NC_000003.11:g.195799929_195799931del, NC_000003.11:g.195799930_195799931del, NC_000003.11:g.195799931del, NC_000003.11:g.195799931dup, NC_000003.11:g.195799930_195799931dup, NC_000003.11:g.195799924_195799931dup, NC_000003.11:g.195799922_195799931dup, NC_000003.11:g.195799921_195799931dup, NC_000003.11:g.195799913_195799931dup, NG_046395.1:g.14111_14125del, NG_046395.1:g.14114_14125del, NG_046395.1:g.14117_14125del, NG_046395.1:g.14118_14125del, NG_046395.1:g.14119_14125del, NG_046395.1:g.14120_14125del, NG_046395.1:g.14121_14125del, NG_046395.1:g.14122_14125del, NG_046395.1:g.14123_14125del, NG_046395.1:g.14124_14125del, NG_046395.1:g.14125del, NG_046395.1:g.14125dup, NG_046395.1:g.14124_14125dup, NG_046395.1:g.14118_14125dup, NG_046395.1:g.14116_14125dup, NG_046395.1:g.14115_14125dup, NG_046395.1:g.14107_14125dup

Select item 149124001313.

rs1491240013 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:196084391 (GRCh38)
3:195811262 (GRCh37)
Canonical SPDI:: NC_000003.12:196084390:CA:
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000003.12:g.196084391_196084392del, NC_000003.11:g.195811262_195811263del, NG_046395.1:g.2770_2771del

Select item 149119230814.

rs1491192308 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 3:196065418 (GRCh38)
3:195792290 (GRCh37)
Canonical SPDI:: NC_000003.12:196065418:G:GTG
Gene:: TFRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTG=0./0 (ALFA)
HGVS:: NC_000003.12:g.196065419_196065420insTG, NC_000003.11:g.195792290_195792291insTG, NG_046395.1:g.21743_21744insAC

Select item 149111843515.

rs1491118435 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:196073036 (GRCh38)
3:195799907 (GRCh37)
Canonical SPDI:: NC_000003.12:196073035:CA:
Gene:: TFRC (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00742/88 (ALFA)
-=0.00145/40 (TOMMO)
-=0.00282/5 (Korea1K)
HGVS:: NC_000003.12:g.196073036_196073037del, NC_000003.11:g.195799907_195799908del, NG_046395.1:g.14125_14126del

Select item 149109115716.

rs1491091157 has merged into rs370832734 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:196057792 (GRCh38)
3:195784663 (GRCh37)
Canonical SPDI:: NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196057781:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TFRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.196057792_196057798del, NC_000003.12:g.196057795_196057798del, NC_000003.12:g.196057796_196057798del, NC_000003.12:g.196057797_196057798del, NC_000003.12:g.196057798del, NC_000003.12:g.196057798dup, NC_000003.12:g.196057797_196057798dup, NC_000003.12:g.196057796_196057798dup, NC_000003.12:g.196057794_196057798dup, NC_000003.12:g.196057792_196057798dup, NC_000003.12:g.196057791_196057798dup, NC_000003.12:g.196057790_196057798dup, NC_000003.12:g.196057787_196057798dup, NC_000003.12:g.196057798_196057799insAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.196057798_196057799insAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.196057798_196057799insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.195784663_195784669del, NC_000003.11:g.195784666_195784669del, NC_000003.11:g.195784667_195784669del, NC_000003.11:g.195784668_195784669del, NC_000003.11:g.195784669del, NC_000003.11:g.195784669dup, NC_000003.11:g.195784668_195784669dup, NC_000003.11:g.195784667_195784669dup, NC_000003.11:g.195784665_195784669dup, NC_000003.11:g.195784663_195784669dup, NC_000003.11:g.195784662_195784669dup, NC_000003.11:g.195784661_195784669dup, NC_000003.11:g.195784658_195784669dup, NC_000003.11:g.195784669_195784670insAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.195784669_195784670insAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.195784669_195784670insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_046395.1:g.29374_29380del, NG_046395.1:g.29377_29380del, NG_046395.1:g.29378_29380del, NG_046395.1:g.29379_29380del, NG_046395.1:g.29380del, NG_046395.1:g.29380dup, NG_046395.1:g.29379_29380dup, NG_046395.1:g.29378_29380dup, NG_046395.1:g.29376_29380dup, NG_046395.1:g.29374_29380dup, NG_046395.1:g.29373_29380dup, NG_046395.1:g.29372_29380dup, NG_046395.1:g.29369_29380dup, NG_046395.1:g.29380_29381insTTTTTTTTTTTTTTTTTTTTT, NG_046395.1:g.29380_29381insTTTTTTTTTTTTTTTTTTTTTT, NG_046395.1:g.29380_29381insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149102690817.

rs1491026908 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 3:196073060 (GRCh38)
3:195799931 (GRCh37)
Canonical SPDI:: NC_000003.12:196073059:AC:
Gene:: TFRC (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00025/7 (TOMMO)
HGVS:: NC_000003.12:g.196073060_196073061del, NC_000003.11:g.195799931_195799932del, NG_046395.1:g.14101_14102del

Select item 149102476218.

rs1491024762 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: 3:196073060 (GRCh38)
3:195799932 (GRCh37)
Canonical SPDI:: NC_000003.12:196073060::AC
Gene:: TFRC (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AC=0./0 (ALFA)
AC=0.000035/4 (GnomAD)
HGVS:: NC_000003.12:g.196073060_196073061insAC, NC_000003.11:g.195799931_195799932insAC, NG_046395.1:g.14101_14102insGT

Select item 149094876719.

rs1490948767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196060368 (GRCh38)
3:195787239 (GRCh37)
Canonical SPDI:: NC_000003.12:196060367:C:T
Gene:: TFRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.196060368C>T, NC_000003.11:g.195787239C>T, NG_046395.1:g.26794G>A

Select item 149082190320.

rs1490821903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:196053367 (GRCh38)
3:195780238 (GRCh37)
Canonical SPDI:: NC_000003.12:196053366:T:C
Gene:: TFRC (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)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196053367T>C, NC_000003.11:g.195780238T>C, NG_046395.1:g.33795A>G

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