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Select item 14915789631.

rs1491578963 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCC [Show Flanks]
Chromosome:: 19:58557663 (GRCh38)
19:59069031 (GRCh37)
Canonical SPDI:: NC_000019.10:58557663:ACCC:ACCCACCC
Gene:: UBE2M (Varview), MZF1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACCCACCC=0./0 (ALFA)
ACCC=0.000004/1 (TOPMED)
ACCC=0.000023/1 (GnomAD)
HGVS:: NC_000019.10:g.58557664_58557667dup, NC_000019.9:g.59069031_59069034dup

Select item 14915430052.

rs1491543005 has merged into rs112663252 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:58574425 (GRCh38)
19:59085792 (GRCh37)
Canonical SPDI:: NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MZF1 (Varview), CENPBD2P (Varview), MZF1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
TTTT=0.053819/31 (NorthernSweden)
HGVS:: NC_000019.10:g.58574425_58574436del, NC_000019.10:g.58574427_58574436del, NC_000019.10:g.58574428_58574436del, NC_000019.10:g.58574429_58574436del, NC_000019.10:g.58574430_58574436del, NC_000019.10:g.58574431_58574436del, NC_000019.10:g.58574432_58574436del, NC_000019.10:g.58574433_58574436del, NC_000019.10:g.58574434_58574436del, NC_000019.10:g.58574435_58574436del, NC_000019.10:g.58574436del, NC_000019.10:g.58574436dup, NC_000019.10:g.58574435_58574436dup, NC_000019.10:g.58574434_58574436dup, NC_000019.10:g.58574433_58574436dup, NC_000019.10:g.58574432_58574436dup, NC_000019.10:g.58574431_58574436dup, NC_000019.10:g.58574430_58574436dup, NC_000019.10:g.58574429_58574436dup, NC_000019.10:g.58574428_58574436dup, NC_000019.10:g.58574427_58574436dup, NC_000019.10:g.58574425_58574436dup, NC_000019.10:g.58574424_58574436dup, NC_000019.10:g.58574423_58574436dup, NC_000019.10:g.58574422_58574436dup, NC_000019.10:g.58574421_58574436dup, NC_000019.10:g.58574436_58574437insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.59085792_59085803del, NC_000019.9:g.59085794_59085803del, NC_000019.9:g.59085795_59085803del, NC_000019.9:g.59085796_59085803del, NC_000019.9:g.59085797_59085803del, NC_000019.9:g.59085798_59085803del, NC_000019.9:g.59085799_59085803del, NC_000019.9:g.59085800_59085803del, NC_000019.9:g.59085801_59085803del, NC_000019.9:g.59085802_59085803del, NC_000019.9:g.59085803del, NC_000019.9:g.59085803dup, NC_000019.9:g.59085802_59085803dup, NC_000019.9:g.59085801_59085803dup, NC_000019.9:g.59085800_59085803dup, NC_000019.9:g.59085799_59085803dup, NC_000019.9:g.59085798_59085803dup, NC_000019.9:g.59085797_59085803dup, NC_000019.9:g.59085796_59085803dup, NC_000019.9:g.59085795_59085803dup, NC_000019.9:g.59085794_59085803dup, NC_000019.9:g.59085792_59085803dup, NC_000019.9:g.59085791_59085803dup, NC_000019.9:g.59085790_59085803dup, NC_000019.9:g.59085789_59085803dup, NC_000019.9:g.59085788_59085803dup, NC_000019.9:g.59085803_59085804insTTTTTTTTTTTTTTTTTTTTTTTT, NR_027334.2:n.2234_2245del, NR_027334.2:n.2236_2245del, NR_027334.2:n.2237_2245del, NR_027334.2:n.2238_2245del, NR_027334.2:n.2239_2245del, NR_027334.2:n.2240_2245del, NR_027334.2:n.2241_2245del, NR_027334.2:n.2242_2245del, NR_027334.2:n.2243_2245del, NR_027334.2:n.2244_2245del, NR_027334.2:n.2245del, NR_027334.2:n.2245dup, NR_027334.2:n.2244_2245dup, NR_027334.2:n.2243_2245dup, NR_027334.2:n.2242_2245dup, NR_027334.2:n.2241_2245dup, NR_027334.2:n.2240_2245dup, NR_027334.2:n.2239_2245dup, NR_027334.2:n.2238_2245dup, NR_027334.2:n.2237_2245dup, NR_027334.2:n.2236_2245dup, NR_027334.2:n.2234_2245dup, NR_027334.2:n.2233_2245dup, NR_027334.2:n.2232_2245dup, NR_027334.2:n.2231_2245dup, NR_027334.2:n.2230_2245dup, NR_027334.2:n.2245_2246insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915054633.

rs1491505463 [Homo sapiens]

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

Select item 14915037514.

rs1491503751 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:58557202 (GRCh38)
19:59068569 (GRCh37)
Canonical SPDI:: NC_000019.10:58557201:AA:
Gene:: UBE2M (Varview), MZF1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000051/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000012/3 (GnomAD_exomes)
-=0.000025/3 (ExAC)
HGVS:: NC_000019.10:g.58557202_58557203del, NC_000019.9:g.59068569_59068570del

Select item 14914514075.

rs1491451407 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:58575177 (GRCh38)
19:59086545 (GRCh37)
Canonical SPDI:: NC_000019.10:58575177::G
Gene:: MZF1 (Varview), CENPBD2P (Varview), MZF1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/1 (GnomAD)
HGVS:: NC_000019.10:g.58575177_58575178insG, NC_000019.9:g.59086544_59086545insG

Select item 14914345516.

rs1491434551 has merged into rs767668303 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 19:58571097 (GRCh38)
19:59082464 (GRCh37)
Canonical SPDI:: NC_000019.10:58571096:GGGGG:GGGG,NC_000019.10:58571096:GGGGG:GGGGGG
Gene:: MZF1 (Varview), MZF1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0.000051/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000009/1 (ExAC)
HGVS:: NC_000019.10:g.58571101del, NC_000019.10:g.58571101dup, NC_000019.9:g.59082468del, NC_000019.9:g.59082468dup, XM_005259204.4:c.416del, XM_005259204.4:c.416dup, XM_005259204.3:c.416del, XM_005259204.3:c.416dup, XM_005259204.2:c.416del, XM_005259204.2:c.416dup, XM_005259204.1:c.416del, XM_005259204.1:c.416dup, XM_011527264.4:c.383del, XM_011527264.4:c.383dup, XM_011527264.3:c.383del, XM_011527264.3:c.383dup, XM_011527264.2:c.383del, XM_011527264.2:c.383dup, XM_011527264.1:c.383del, XM_011527264.1:c.383dup, NM_003422.3:c.293del, NM_003422.3:c.293dup, NM_003422.2:c.293del, NM_003422.2:c.293dup, NM_198055.2:c.293del, NM_198055.2:c.293dup, NM_198055.1:c.293del, NM_198055.1:c.293dup, NM_001267033.2:c.293del, NM_001267033.2:c.293dup, NM_001267033.1:c.293del, NM_001267033.1:c.293dup, XM_047439312.1:c.416del, XM_047439312.1:c.416dup, XM_047439313.1:c.416del, XM_047439313.1:c.416dup, XP_005259261.1:p.Pro139fs, XP_005259261.1:p.Pro139_Glu140insTer, XP_011525566.1:p.Pro128fs, XP_011525566.1:p.Pro128_Glu129insTer, NP_003413.2:p.Pro98fs, NP_003413.2:p.Pro98_Glu99insTer, NP_932172.1:p.Pro98fs, NP_932172.1:p.Pro98_Glu99insTer, NP_001253962.1:p.Pro98fs, NP_001253962.1:p.Pro98_Glu99insTer, XP_047295268.1:p.Pro139fs, XP_047295268.1:p.Pro139_Glu140insTer, XP_047295269.1:p.Pro139fs, XP_047295269.1:p.Pro139_Glu140insTer

Select item 14912726687.

rs1491272668 has merged into rs71190056 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:58564914 (GRCh38)
19:59076281 (GRCh37)
Canonical SPDI:: NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MZF1 (Varview), MZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.58564914_58564938del, NC_000019.10:g.58564915_58564938del, NC_000019.10:g.58564916_58564938del, NC_000019.10:g.58564917_58564938del, NC_000019.10:g.58564918_58564938del, NC_000019.10:g.58564919_58564938del, NC_000019.10:g.58564920_58564938del, NC_000019.10:g.58564921_58564938del, NC_000019.10:g.58564922_58564938del, NC_000019.10:g.58564923_58564938del, NC_000019.10:g.58564924_58564938del, NC_000019.10:g.58564925_58564938del, NC_000019.10:g.58564926_58564938del, NC_000019.10:g.58564927_58564938del, NC_000019.10:g.58564928_58564938del, NC_000019.10:g.58564929_58564938del, NC_000019.10:g.58564930_58564938del, NC_000019.10:g.58564931_58564938del, NC_000019.10:g.58564932_58564938del, NC_000019.10:g.58564933_58564938del, NC_000019.10:g.58564934_58564938del, NC_000019.10:g.58564935_58564938del, NC_000019.10:g.58564936_58564938del, NC_000019.10:g.58564937_58564938del, NC_000019.10:g.58564938del, NC_000019.10:g.58564938dup, NC_000019.10:g.58564937_58564938dup, NC_000019.10:g.58564936_58564938dup, NC_000019.10:g.58564935_58564938dup, NC_000019.10:g.58564934_58564938dup, NC_000019.10:g.58564933_58564938dup, NC_000019.10:g.58564932_58564938dup, NC_000019.10:g.58564931_58564938dup, NC_000019.10:g.58564930_58564938dup, NC_000019.10:g.58564929_58564938dup, NC_000019.10:g.58564928_58564938dup, NC_000019.10:g.58564927_58564938dup, NC_000019.10:g.58564926_58564938dup, NC_000019.10:g.58564925_58564938dup, NC_000019.10:g.58564924_58564938dup, NC_000019.10:g.58564923_58564938dup, NC_000019.10:g.58564921_58564938dup, NC_000019.10:g.58564920_58564938dup, NC_000019.10:g.58564919_58564938dup, NC_000019.10:g.58564918_58564938dup, NC_000019.10:g.58564916_58564938dup, NC_000019.10:g.58564915_58564938dup, NC_000019.9:g.59076281_59076305del, NC_000019.9:g.59076282_59076305del, NC_000019.9:g.59076283_59076305del, NC_000019.9:g.59076284_59076305del, NC_000019.9:g.59076285_59076305del, NC_000019.9:g.59076286_59076305del, NC_000019.9:g.59076287_59076305del, NC_000019.9:g.59076288_59076305del, NC_000019.9:g.59076289_59076305del, NC_000019.9:g.59076290_59076305del, NC_000019.9:g.59076291_59076305del, NC_000019.9:g.59076292_59076305del, NC_000019.9:g.59076293_59076305del, NC_000019.9:g.59076294_59076305del, NC_000019.9:g.59076295_59076305del, NC_000019.9:g.59076296_59076305del, NC_000019.9:g.59076297_59076305del, NC_000019.9:g.59076298_59076305del, NC_000019.9:g.59076299_59076305del, NC_000019.9:g.59076300_59076305del, NC_000019.9:g.59076301_59076305del, NC_000019.9:g.59076302_59076305del, NC_000019.9:g.59076303_59076305del, NC_000019.9:g.59076304_59076305del, NC_000019.9:g.59076305del, NC_000019.9:g.59076305dup, NC_000019.9:g.59076304_59076305dup, NC_000019.9:g.59076303_59076305dup, NC_000019.9:g.59076302_59076305dup, NC_000019.9:g.59076301_59076305dup, NC_000019.9:g.59076300_59076305dup, NC_000019.9:g.59076299_59076305dup, NC_000019.9:g.59076298_59076305dup, NC_000019.9:g.59076297_59076305dup, NC_000019.9:g.59076296_59076305dup, NC_000019.9:g.59076295_59076305dup, NC_000019.9:g.59076294_59076305dup, NC_000019.9:g.59076293_59076305dup, NC_000019.9:g.59076292_59076305dup, NC_000019.9:g.59076291_59076305dup, NC_000019.9:g.59076290_59076305dup, NC_000019.9:g.59076288_59076305dup, NC_000019.9:g.59076287_59076305dup, NC_000019.9:g.59076286_59076305dup, NC_000019.9:g.59076285_59076305dup, NC_000019.9:g.59076283_59076305dup, NC_000019.9:g.59076282_59076305dup

Select item 14911740268.

rs1491174026 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GG,GTG,GTTTTTTTTG [Show Flanks]
Chromosome:: 19:58564903 (GRCh38)
19:59076271 (GRCh37)
Canonical SPDI:: NC_000019.10:58564903::G,NC_000019.10:58564903::GG,NC_000019.10:58564903::GTG,NC_000019.10:58564903::GTTTTTTTTG
Gene:: MZF1 (Varview), MZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.00043/5 (TOMMO)
HGVS:: NC_000019.10:g.58564903_58564904insG, NC_000019.10:g.58564903_58564904insGG, NC_000019.10:g.58564903_58564904insGTG, NC_000019.10:g.58564903_58564904insGTTTTTTTTG, NC_000019.9:g.59076270_59076271insG, NC_000019.9:g.59076270_59076271insGG, NC_000019.9:g.59076270_59076271insGTG, NC_000019.9:g.59076270_59076271insGTTTTTTTTG

Select item 14911580799.

rs1491158079 has merged into rs1169301974 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:58575190 (GRCh38)
19:59086557 (GRCh37)
Canonical SPDI:: NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MZF1 (Varview), CENPBD2P (Varview), MZF1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.58575190_58575203del, NC_000019.10:g.58575192_58575203del, NC_000019.10:g.58575193_58575203del, NC_000019.10:g.58575194_58575203del, NC_000019.10:g.58575195_58575203del, NC_000019.10:g.58575196_58575203del, NC_000019.10:g.58575197_58575203del, NC_000019.10:g.58575198_58575203del, NC_000019.10:g.58575199_58575203del, NC_000019.10:g.58575200_58575203del, NC_000019.10:g.58575201_58575203del, NC_000019.10:g.58575202_58575203del, NC_000019.10:g.58575203del, NC_000019.10:g.58575203dup, NC_000019.10:g.58575202_58575203dup, NC_000019.10:g.58575201_58575203dup, NC_000019.10:g.58575200_58575203dup, NC_000019.10:g.58575199_58575203dup, NC_000019.10:g.58575198_58575203dup, NC_000019.10:g.58575197_58575203dup, NC_000019.10:g.58575196_58575203dup, NC_000019.10:g.58575195_58575203dup, NC_000019.10:g.58575194_58575203dup, NC_000019.10:g.58575193_58575203dup, NC_000019.10:g.58575192_58575203dup, NC_000019.10:g.58575190_58575203dup, NC_000019.9:g.59086557_59086570del, NC_000019.9:g.59086559_59086570del, NC_000019.9:g.59086560_59086570del, NC_000019.9:g.59086561_59086570del, NC_000019.9:g.59086562_59086570del, NC_000019.9:g.59086563_59086570del, NC_000019.9:g.59086564_59086570del, NC_000019.9:g.59086565_59086570del, NC_000019.9:g.59086566_59086570del, NC_000019.9:g.59086567_59086570del, NC_000019.9:g.59086568_59086570del, NC_000019.9:g.59086569_59086570del, NC_000019.9:g.59086570del, NC_000019.9:g.59086570dup, NC_000019.9:g.59086569_59086570dup, NC_000019.9:g.59086568_59086570dup, NC_000019.9:g.59086567_59086570dup, NC_000019.9:g.59086566_59086570dup, NC_000019.9:g.59086565_59086570dup, NC_000019.9:g.59086564_59086570dup, NC_000019.9:g.59086563_59086570dup, NC_000019.9:g.59086562_59086570dup, NC_000019.9:g.59086561_59086570dup, NC_000019.9:g.59086560_59086570dup, NC_000019.9:g.59086559_59086570dup, NC_000019.9:g.59086557_59086570dup

Select item 149104722510.

rs1491047225 has merged into rs55976513 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:58565108 (GRCh38)
19:59076475 (GRCh37)
Canonical SPDI:: NC_000019.10:58565096:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:58565096:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:58565096:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:58565096:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:58565096:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:58565096:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: MZF1 (Varview), MZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
-=0.275/165 (NorthernSweden)
-=0.36144/1393 (ALSPAC)
-=0.36354/1348 (TWINSUK)
-=0.43229/2011 (1000Genomes)
HGVS:: NC_000019.10:g.58565108_58565110del, NC_000019.10:g.58565109_58565110del, NC_000019.10:g.58565110del, NC_000019.10:g.58565110dup, NC_000019.10:g.58565109_58565110dup, NC_000019.10:g.58565102_58565110dup, NC_000019.9:g.59076475_59076477del, NC_000019.9:g.59076476_59076477del, NC_000019.9:g.59076477del, NC_000019.9:g.59076477dup, NC_000019.9:g.59076476_59076477dup, NC_000019.9:g.59076469_59076477dup

Select item 149098734411.

rs1490987344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:58569084 (GRCh38)
19:59080451 (GRCh37)
Canonical SPDI:: NC_000019.10:58569083:T:C
Gene:: MZF1 (Varview), MZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.58569084T>C, NC_000019.9:g.59080451T>C

Select item 149097783612.

rs1490977836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:58565862 (GRCh38)
19:59077229 (GRCh37)
Canonical SPDI:: NC_000019.10:58565861:T:C
Gene:: MZF1 (Varview), MZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000122/2 (ALFA)
C=0.000115/15 (GnomAD)
C=0.000468/3 (1000Genomes)
HGVS:: NC_000019.10:g.58565862T>C, NC_000019.9:g.59077229T>C

Select item 149065956413.

rs1490659564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58571048 (GRCh38)
19:59082415 (GRCh37)
Canonical SPDI:: NC_000019.10:58571047:C:T
Gene:: MZF1 (Varview), MZF1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.58571048C>T, NC_000019.9:g.59082415C>T, XM_005259204.4:c.465G>A, XM_005259204.3:c.465G>A, XM_005259204.2:c.465G>A, XM_005259204.1:c.465G>A, XM_011527264.4:c.432G>A, XM_011527264.3:c.432G>A, XM_011527264.2:c.432G>A, XM_011527264.1:c.432G>A, NM_003422.3:c.342G>A, NM_003422.2:c.342G>A, NM_198055.2:c.342G>A, NM_198055.1:c.342G>A, NM_001267033.2:c.342G>A, NM_001267033.1:c.342G>A, XM_047439312.1:c.465G>A, XM_047439313.1:c.465G>A

Select item 149056482514.

rs1490564825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:58563113 (GRCh38)
19:59074480 (GRCh37)
Canonical SPDI:: NC_000019.10:58563112:C:G,NC_000019.10:58563112:C:T
Gene:: MZF1 (Varview), MZF1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58563113C>G, NC_000019.10:g.58563113C>T, NC_000019.9:g.59074480C>G, NC_000019.9:g.59074480C>T, XM_005259204.4:c.1287G>C, XM_005259204.4:c.1287G>A, XM_005259204.3:c.1287G>C, XM_005259204.3:c.1287G>A, XM_005259204.2:c.1287G>C, XM_005259204.2:c.1287G>A, XM_005259204.1:c.1287G>C, XM_005259204.1:c.1287G>A, XM_011527264.4:c.1254G>C, XM_011527264.4:c.1254G>A, XM_011527264.3:c.1254G>C, XM_011527264.3:c.1254G>A, XM_011527264.2:c.1254G>C, XM_011527264.2:c.1254G>A, XM_011527264.1:c.1254G>C, XM_011527264.1:c.1254G>A, NM_003422.3:c.1164G>C, NM_003422.3:c.1164G>A, NM_003422.2:c.1164G>C, NM_003422.2:c.1164G>A, NM_198055.2:c.1164G>C, NM_198055.2:c.1164G>A, NM_198055.1:c.1164G>C, NM_198055.1:c.1164G>A, NM_001267033.2:c.*47G>C, NM_001267033.2:c.*47G>A, NM_001267033.1:c.*47G>C, NM_001267033.1:c.*47G>A, XM_017027206.2:c.312G>C, XM_017027206.2:c.312G>A, XM_017027206.1:c.312G>C, XM_017027206.1:c.312G>A, XM_047439312.1:c.1287G>C, XM_047439312.1:c.1287G>A, XM_047439313.1:c.1287G>C, XM_047439313.1:c.1287G>A, XP_005259261.1:p.Glu429Asp, XP_011525566.1:p.Glu418Asp, NP_003413.2:p.Glu388Asp, NP_932172.1:p.Glu388Asp, XP_016882695.1:p.Glu104Asp, XP_047295268.1:p.Glu429Asp, XP_047295269.1:p.Glu429Asp

Select item 149036602515.

rs1490366025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:58568679 (GRCh38)
19:59080046 (GRCh37)
Canonical SPDI:: NC_000019.10:58568678:A:C
Gene:: MZF1 (Varview), MZF1-AS1 (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:: NC_000019.10:g.58568679A>C, NC_000019.9:g.59080046A>C

Select item 149034600516.

rs1490346005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58569516 (GRCh38)
19:59080883 (GRCh37)
Canonical SPDI:: NC_000019.10:58569515:C:T
Gene:: MZF1 (Varview), MZF1-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58569516C>T, NC_000019.9:g.59080883C>T, XM_005259204.4:c.774G>A, XM_005259204.3:c.774G>A, XM_005259204.2:c.774G>A, XM_005259204.1:c.774G>A, XM_011527264.4:c.741G>A, XM_011527264.3:c.741G>A, XM_011527264.2:c.741G>A, XM_011527264.1:c.741G>A, NM_003422.3:c.651G>A, NM_003422.2:c.651G>A, NM_198055.2:c.651G>A, NM_198055.1:c.651G>A, NM_001267033.2:c.651G>A, NM_001267033.1:c.651G>A, XM_017027206.2:c.-220G>A, XM_017027206.1:c.-220G>A, XM_047439312.1:c.774G>A, XM_047439313.1:c.774G>A

Select item 149028312417.

rs1490283124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:58563333 (GRCh38)
19:59074700 (GRCh37)
Canonical SPDI:: NC_000019.10:58563332:T:C
Gene:: MZF1 (Varview), MZF1-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000029/7 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58563333T>C, NC_000019.9:g.59074700T>C, XM_005259204.4:c.1067A>G, XM_005259204.3:c.1067A>G, XM_005259204.2:c.1067A>G, XM_005259204.1:c.1067A>G, XM_011527264.4:c.1034A>G, XM_011527264.3:c.1034A>G, XM_011527264.2:c.1034A>G, XM_011527264.1:c.1034A>G, NM_003422.3:c.944A>G, NM_003422.2:c.944A>G, NM_198055.2:c.944A>G, NM_198055.1:c.944A>G, XM_017027206.2:c.92A>G, XM_017027206.1:c.92A>G, XM_047439312.1:c.1067A>G, XM_047439313.1:c.1067A>G, XP_005259261.1:p.Gln356Arg, XP_011525566.1:p.Gln345Arg, NP_003413.2:p.Gln315Arg, NP_932172.1:p.Gln315Arg, XP_016882695.1:p.Gln31Arg, XP_047295268.1:p.Gln356Arg, XP_047295269.1:p.Gln356Arg

Select item 149015599418.

rs1490155994 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:58566325 (GRCh38)
19:59077692 (GRCh37)
Canonical SPDI:: NC_000019.10:58566323:TGT:T
Gene:: MZF1 (Varview), MZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.58566325_58566326del, NC_000019.9:g.59077692_59077693del

Select item 149011467019.

rs1490114670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:58565199 (GRCh38)
19:59076566 (GRCh37)
Canonical SPDI:: NC_000019.10:58565198:G:A,NC_000019.10:58565198:G:T
Gene:: MZF1 (Varview), MZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.58565199G>A, NC_000019.10:g.58565199G>T, NC_000019.9:g.59076566G>A, NC_000019.9:g.59076566G>T

Select item 148999697820.

rs1489996978 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:58567087 (GRCh38)
19:59078454 (GRCh37)
Canonical SPDI:: NC_000019.10:58567086:T:A
Gene:: MZF1 (Varview), MZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00007/1 (TOMMO)
HGVS:: NC_000019.10:g.58567087T>A, NC_000019.9:g.59078454T>A

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