SNP Links for Gene (Select 55142) - SNP

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Select item 14915581461.

rs1491558146 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 15:42557452 (GRCh38)
15:42849651 (GRCh37)
Canonical SPDI:: NC_000015.10:42557452:T:TGT
Gene:: HAUS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TG=0.00022/19 (GnomAD)
HGVS:: NC_000015.10:g.42557453_42557454insGT, NC_000015.9:g.42849651_42849652insGT

Select item 14914100222.

rs1491410022 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:42565387 (GRCh38)
15:42857585 (GRCh37)
Canonical SPDI:: NC_000015.10:42565386:AT:
Gene:: HAUS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00006/4 (GnomAD)
HGVS:: NC_000015.10:g.42565387_42565388del, NC_000015.9:g.42857585_42857586del

Select item 14913670973.

rs1491367097 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 15:42560411 (GRCh38)
15:42852609 (GRCh37)
Canonical SPDI:: NC_000015.10:42560410:AA:
Gene:: HAUS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.42560411_42560412del, NC_000015.9:g.42852609_42852610del

Select item 14911583674.

rs1491158367 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GAGAG [Show Flanks]
Chromosome:: 15:42560411 (GRCh38)
15:42852610 (GRCh37)
Canonical SPDI:: NC_000015.10:42560411::G,NC_000015.10:42560411::GAGAG
Gene:: HAUS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
GAGAG=0.000004/1 (TOPMED)
G=0.000079/11 (GnomAD)
HGVS:: NC_000015.10:g.42560411_42560412insG, NC_000015.10:g.42560411_42560412insGAGAG, NC_000015.9:g.42852609_42852610insG, NC_000015.9:g.42852609_42852610insGAGAG

Select item 14911262005.

rs1491126200 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATA [Show Flanks]
Chromosome:: 15:42557514 (GRCh38)
15:42849713 (GRCh37)
Canonical SPDI:: NC_000015.10:42557514:ATATATA:ATATATAATATATA
Gene:: HAUS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATAATATATA=0.00034/4 (ALFA)
HGVS:: NC_000015.10:g.42557515_42557521dup, NC_000015.9:g.42849713_42849719dup

Select item 14910328156.

rs1491032815 has merged into rs58614126 [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,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:42549775 (GRCh38)
15:42841973 (GRCh37)
Canonical SPDI:: NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:42549765:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HAUS2 (Varview), LRRC57 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.42549775_42549789del, NC_000015.10:g.42549776_42549789del, NC_000015.10:g.42549777_42549789del, NC_000015.10:g.42549778_42549789del, NC_000015.10:g.42549779_42549789del, NC_000015.10:g.42549780_42549789del, NC_000015.10:g.42549781_42549789del, NC_000015.10:g.42549782_42549789del, NC_000015.10:g.42549783_42549789del, NC_000015.10:g.42549784_42549789del, NC_000015.10:g.42549785_42549789del, NC_000015.10:g.42549786_42549789del, NC_000015.10:g.42549787_42549789del, NC_000015.10:g.42549788_42549789del, NC_000015.10:g.42549789del, NC_000015.10:g.42549789dup, NC_000015.10:g.42549788_42549789dup, NC_000015.10:g.42549787_42549789dup, NC_000015.10:g.42549786_42549789dup, NC_000015.10:g.42549785_42549789dup, NC_000015.10:g.42549784_42549789dup, NC_000015.10:g.42549783_42549789dup, NC_000015.10:g.42549782_42549789dup, NC_000015.10:g.42549781_42549789dup, NC_000015.10:g.42549780_42549789dup, NC_000015.10:g.42549772_42549789dup, NC_000015.9:g.42841973_42841987del, NC_000015.9:g.42841974_42841987del, NC_000015.9:g.42841975_42841987del, NC_000015.9:g.42841976_42841987del, NC_000015.9:g.42841977_42841987del, NC_000015.9:g.42841978_42841987del, NC_000015.9:g.42841979_42841987del, NC_000015.9:g.42841980_42841987del, NC_000015.9:g.42841981_42841987del, NC_000015.9:g.42841982_42841987del, NC_000015.9:g.42841983_42841987del, NC_000015.9:g.42841984_42841987del, NC_000015.9:g.42841985_42841987del, NC_000015.9:g.42841986_42841987del, NC_000015.9:g.42841987del, NC_000015.9:g.42841987dup, NC_000015.9:g.42841986_42841987dup, NC_000015.9:g.42841985_42841987dup, NC_000015.9:g.42841984_42841987dup, NC_000015.9:g.42841983_42841987dup, NC_000015.9:g.42841982_42841987dup, NC_000015.9:g.42841981_42841987dup, NC_000015.9:g.42841980_42841987dup, NC_000015.9:g.42841979_42841987dup, NC_000015.9:g.42841978_42841987dup, NC_000015.9:g.42841970_42841987dup

Select item 14909869427.

rs1490986942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:42569410 (GRCh38)
15:42861608 (GRCh37)
Canonical SPDI:: NC_000015.10:42569409:G:C
Gene:: HAUS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_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:: NC_000015.10:g.42569410G>C, NC_000015.9:g.42861608G>C, NM_018097.3:c.*2594G>C, NM_018097.2:c.*2594G>C, NM_001323631.2:c.*2594G>C, NM_001323631.1:c.*2594G>C, XM_017022397.2:c.*2594G>C, XM_017022397.1:c.*2594G>C, NM_001323632.2:c.*2594G>C, NM_001323632.1:c.*2594G>C, NM_001130447.2:c.*2594G>C, NM_001130447.1:c.*2594G>C, NM_001323630.2:c.*2594G>C, NM_001323630.1:c.*2594G>C

Select item 14909719068.

rs1490971906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:42565951 (GRCh38)
15:42858149 (GRCh37)
Canonical SPDI:: NC_000015.10:42565950:C:A
Gene:: HAUS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.42565951C>A, NC_000015.9:g.42858149C>A

Select item 14907493949.

rs1490749394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:42555827 (GRCh38)
15:42848025 (GRCh37)
Canonical SPDI:: NC_000015.10:42555826:G:A
Gene:: HAUS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.42555827G>A, NC_000015.9:g.42848025G>A

Select item 149071964910.

rs1490719649 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:42550998 (GRCh38)
15:42843197 (GRCh37)
Canonical SPDI:: NC_000015.10:42550998::A
Gene:: HAUS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.002/2 (Korea1K)
HGVS:: NC_000015.10:g.42550998_42550999insA, NC_000015.9:g.42843196_42843197insA

Select item 149064201811.

rs1490642018 has merged into rs58758699 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: 15:42549417 (GRCh38)
15:42841615 (GRCh37)
Canonical SPDI:: NC_000015.10:42549416:TTTTTT:TTTTT,NC_000015.10:42549416:TTTTTT:TTTTTTT,NC_000015.10:42549416:TTTTTT:TTTTTTTT
Gene:: HAUS2 (Varview), LRRC57 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.42549422del, NC_000015.10:g.42549422dup, NC_000015.10:g.42549421_42549422dup, NC_000015.9:g.42841620del, NC_000015.9:g.42841620dup, NC_000015.9:g.42841619_42841620dup

Select item 149055654912.

rs1490556549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:42552086 (GRCh38)
15:42844284 (GRCh37)
Canonical SPDI:: NC_000015.10:42552085:A:C,NC_000015.10:42552085:A:G
Gene:: HAUS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000093/13 (GnomAD)
HGVS:: NC_000015.10:g.42552086A>C, NC_000015.10:g.42552086A>G, NC_000015.9:g.42844284A>C, NC_000015.9:g.42844284A>G

Select item 149055096513.

rs1490550965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:42561310 (GRCh38)
15:42853508 (GRCh37)
Canonical SPDI:: NC_000015.10:42561309:G:A
Gene:: HAUS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.42561310G>A, NC_000015.9:g.42853508G>A, NM_018097.3:c.297G>A, NM_018097.2:c.297G>A, NM_001323631.2:c.15G>A, NM_001323631.1:c.15G>A, XM_017022397.2:c.15G>A, XM_017022397.1:c.15G>A, NM_001323632.2:c.15G>A, NM_001323632.1:c.15G>A, NM_001130447.2:c.204G>A, NM_001130447.1:c.204G>A, NM_001323629.2:c.*11G>A, NM_001323629.1:c.*11G>A

Select item 149050235614.

rs1490502356 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:42560797 (GRCh38)
15:42852995 (GRCh37)
Canonical SPDI:: NC_000015.10:42560796:A:G
Gene:: HAUS2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.42560797A>G, NC_000015.9:g.42852995A>G, NM_001323631.2:c.-100A>G, NM_001323631.1:c.-100A>G, XM_017022397.2:c.-100A>G, XM_017022397.1:c.-100A>G, NM_001323629.2:c.272A>G, NM_001323629.1:c.272A>G, NP_001310558.1:p.Tyr91Cys

Select item 149045750015.

rs1490457500 has merged into rs1200353279 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:42556272 (GRCh38)
15:42848470 (GRCh37)
Canonical SPDI:: NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42556261:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HAUS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000057/15 (TOPMED)
HGVS:: NC_000015.10:g.42556272_42556284del, NC_000015.10:g.42556275_42556284del, NC_000015.10:g.42556276_42556284del, NC_000015.10:g.42556277_42556284del, NC_000015.10:g.42556278_42556284del, NC_000015.10:g.42556279_42556284del, NC_000015.10:g.42556280_42556284del, NC_000015.10:g.42556281_42556284del, NC_000015.10:g.42556282_42556284del, NC_000015.10:g.42556283_42556284del, NC_000015.10:g.42556284del, NC_000015.10:g.42556284dup, NC_000015.10:g.42556283_42556284dup, NC_000015.10:g.42556282_42556284dup, NC_000015.10:g.42556281_42556284dup, NC_000015.10:g.42556280_42556284dup, NC_000015.10:g.42556279_42556284dup, NC_000015.10:g.42556277_42556284dup, NC_000015.10:g.42556276_42556284dup, NC_000015.10:g.42556275_42556284dup, NC_000015.10:g.42556274_42556284dup, NC_000015.9:g.42848470_42848482del, NC_000015.9:g.42848473_42848482del, NC_000015.9:g.42848474_42848482del, NC_000015.9:g.42848475_42848482del, NC_000015.9:g.42848476_42848482del, NC_000015.9:g.42848477_42848482del, NC_000015.9:g.42848478_42848482del, NC_000015.9:g.42848479_42848482del, NC_000015.9:g.42848480_42848482del, NC_000015.9:g.42848481_42848482del, NC_000015.9:g.42848482del, NC_000015.9:g.42848482dup, NC_000015.9:g.42848481_42848482dup, NC_000015.9:g.42848480_42848482dup, NC_000015.9:g.42848479_42848482dup, NC_000015.9:g.42848478_42848482dup, NC_000015.9:g.42848477_42848482dup, NC_000015.9:g.42848475_42848482dup, NC_000015.9:g.42848474_42848482dup, NC_000015.9:g.42848473_42848482dup, NC_000015.9:g.42848472_42848482dup

Select item 149043964216.

rs1490439642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:42569139 (GRCh38)
15:42861337 (GRCh37)
Canonical SPDI:: NC_000015.10:42569138:C:T
Gene:: HAUS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.42569139C>T, NC_000015.9:g.42861337C>T, NM_018097.3:c.*2323C>T, NM_018097.2:c.*2323C>T, NM_001323631.2:c.*2323C>T, NM_001323631.1:c.*2323C>T, XM_017022397.2:c.*2323C>T, XM_017022397.1:c.*2323C>T, NM_001323632.2:c.*2323C>T, NM_001323632.1:c.*2323C>T, NM_001130447.2:c.*2323C>T, NM_001130447.1:c.*2323C>T, NM_001323630.2:c.*2323C>T, NM_001323630.1:c.*2323C>T

Select item 149022849617.

rs1490228496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:42550124 (GRCh38)
15:42842322 (GRCh37)
Canonical SPDI:: NC_000015.10:42550123:C:T
Gene:: HAUS2 (Varview), LRRC57 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.42550124C>T, NC_000015.9:g.42842322C>T

Select item 149021313218.

rs1490213132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:42547819 (GRCh38)
15:42840017 (GRCh37)
Canonical SPDI:: NC_000015.10:42547818:C:T
Gene:: HAUS2 (Varview), LRRC57 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.42547819C>T, NC_000015.9:g.42840017C>T

Select item 149003381619.

rs1490033816 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:42562015 (GRCh38)
15:42854213 (GRCh37)
Canonical SPDI:: NC_000015.10:42562014:A:C
Gene:: HAUS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.42562015A>C, NC_000015.9:g.42854213A>C

Select item 148996828120.

rs1489968281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:42556008 (GRCh38)
15:42848206 (GRCh37)
Canonical SPDI:: NC_000015.10:42556007:G:A
Gene:: HAUS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000015.10:g.42556008G>A, NC_000015.9:g.42848206G>A

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