SNP Links for Gene (Select 100131434) - SNP

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Select item 14910656931.

rs1491065693 has merged into rs1191430482 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T [Show Flanks]
Chromosome:: X:149528458 (GRCh38)
X:148609995 (GRCh37)
Canonical SPDI:: NC_000023.11:149528455:TTTTT:TT,NC_000023.11:149528455:TTTTT:TTT
Gene:: EOLA1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.149528458_149528460del, NC_000023.11:g.149528459_149528460del, NW_004070890.2:g.5052856_5052858del, NW_004070890.2:g.5052857_5052858del, NG_042270.1:g.2394_2396del, NG_042270.1:g.2395_2396del, NC_000023.10:g.148609997dup, NC_000023.10:g.148609996_148609997del, NC_000023.10:g.148609997del

Select item 14910452582.

rs1491045258 has merged into rs1235653766 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTC>-,TC [Show Flanks]
Chromosome:: X:149535092 (GRCh38)
X:148616624 (GRCh37)
Canonical SPDI:: NC_000023.11:149535084:CTCTCTCTCTC:CTCTCTC,NC_000023.11:149535084:CTCTCTCTCTC:CTCTCTCTC
Gene:: EOLA1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTC=0.000142/2 (ALFA)
-=0.000064/17 (TOPMED)
-=0.000416/2 (1000Genomes)
HGVS:: NC_000023.11:g.149535086TC[3], NC_000023.11:g.149535086TC[4], NW_004070890.2:g.5059484TC[3], NW_004070890.2:g.5059484TC[4], NC_000023.10:g.148616617CT[4], NC_000023.10:g.148616617CT[5]

Select item 14908849033.

rs1490884903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:149537550 (GRCh38)
X:148619082 (GRCh37)
Canonical SPDI:: NC_000023.11:149537549:T:A
Gene:: EOLA1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000099/10 (GnomAD)
A=0.000136/36 (TOPMED)
HGVS:: NC_000023.11:g.149537550T>A, NW_004070890.2:g.5061948T>A, NC_000023.10:g.148619082T>A

Select item 14906817874.

rs1490681787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:149529479 (GRCh38)
X:148611016 (GRCh37)
Canonical SPDI:: NC_000023.11:149529478:T:G
Gene:: EOLA1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.149529479T>G, NW_004070890.2:g.5053877T>G, NC_000023.10:g.148611016T>G

Select item 14903969175.

rs1490396917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:149538076 (GRCh38)
X:148619608 (GRCh37)
Canonical SPDI:: NC_000023.11:149538075:C:T
Gene:: EOLA1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.149538076C>T, NW_004070890.2:g.5062474C>T, NC_000023.10:g.148619608C>T

Select item 14903716066.

rs1490371606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:149539324 (GRCh38)
X:148620857 (GRCh37)
Canonical SPDI:: NC_000023.11:149539323:G:A
Gene:: EOLA1 (Varview), EOLA1-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000343/1 (KOREAN)
HGVS:: NC_000023.11:g.149539324G>A, NW_004070890.2:g.5063722G>A, NC_000023.10:g.148620857G>A

Select item 14903019737.

rs1490301973 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:149536047 (GRCh38)
X:148617579 (GRCh37)
Canonical SPDI:: NC_000023.11:149536046:A:T
Gene:: EOLA1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000067/7 (GnomAD)
T=0.000087/23 (TOPMED)
HGVS:: NC_000023.11:g.149536047A>T, NW_004070890.2:g.5060445A>T, NC_000023.10:g.148617579A>T

Select item 14900923188.

rs1490092318 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: X:149537221 (GRCh38)
X:148618753 (GRCh37)
Canonical SPDI:: NC_000023.11:149537218:CACA:CA
Gene:: EOLA1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.149537219CA[1], NW_004070890.2:g.5061617CA[1], NC_000023.10:g.148618751CA[1]

Select item 14900688519.

rs1490068851 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:149537137 (GRCh38)
X:148618669 (GRCh37)
Canonical SPDI:: NC_000023.11:149537136:A:C
Gene:: EOLA1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.149537137A>C, NW_004070890.2:g.5061535A>C, NC_000023.10:g.148618669A>C

Select item 148993628310.

rs1489936283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:149528044 (GRCh38)
X:148609583 (GRCh37)
Canonical SPDI:: NC_000023.11:149528043:C:T
Gene:: EOLA1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000128/34 (TOPMED)
T=0.000173/18 (GnomAD)
HGVS:: NC_000023.11:g.149528044C>T, NW_004070890.2:g.5052442C>T, NG_042270.1:g.1980C>T, NC_000023.10:g.148609583C>T, NR_027455.5:n.1898G>A, NR_027455.3:n.1895G>A, NR_027455.4:n.1895G>A

Select item 148988941611.

rs1489889416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:149527970 (GRCh38)
X:148609509 (GRCh37)
Canonical SPDI:: NC_000023.11:149527969:G:C
Gene:: EOLA1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.149527970G>C, NW_004070890.2:g.5052368G>C, NG_042270.1:g.1906G>C, NC_000023.10:g.148609509G>C, NR_027455.5:n.1972C>G, NR_027455.3:n.1969C>G, NR_027455.4:n.1969C>G

Select item 148986410212.

rs1489864102 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTTT>- [Show Flanks]
Chromosome:: X:149528776 (GRCh38)
X:148610313 (GRCh37)
Canonical SPDI:: NC_000023.11:149528770:TCTTTTCTTT:TCTTT
Gene:: EOLA1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTTTCTTT=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.149528771TCTTT[1], NW_004070890.2:g.5053169TCTTT[1], NG_042270.1:g.2707TCTTT[1], NC_000023.10:g.148610308TCTTT[1]

Select item 148981231013.

rs1489812310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:149536736 (GRCh38)
X:148618268 (GRCh37)
Canonical SPDI:: NC_000023.11:149536735:C:T
Gene:: EOLA1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000033/3 (GnomAD)
HGVS:: NC_000023.11:g.149536736C>T, NW_004070890.2:g.5061134C>T, NC_000023.10:g.148618268C>T

Select item 148966706614.

rs1489667066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:149527490 (GRCh38)
X:148609029 (GRCh37)
Canonical SPDI:: NC_000023.11:149527489:G:A
Gene:: EOLA1-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/3 (GnomAD)
HGVS:: NC_000023.11:g.149527490G>A, NW_004070890.2:g.5051888G>A, NG_042270.1:g.1426G>A, NC_000023.10:g.148609029G>A

Select item 148954621615.

rs1489546216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:149538841 (GRCh38)
X:148620374 (GRCh37)
Canonical SPDI:: NC_000023.11:149538840:G:A
Gene:: EOLA1 (Varview), EOLA1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00014/2 (ALFA)
A=0.00003/2 (GnomAD)
HGVS:: NC_000023.11:g.149538841G>A, NW_004070890.2:g.5063239G>A, NC_000023.10:g.148620374G>A, NR_027455.5:n.118C>T, NR_027455.4:n.118C>T, NR_027455.3:n.118C>T

Select item 148949318416.

rs1489493184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:149539807 (GRCh38)
X:148621367 (GRCh37)
Canonical SPDI:: NC_000023.11:149539806:C:T
Gene:: EOLA1 (Varview), EOLA1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.149539807C>T, NW_004070890.2:g.5064205C>T, NC_000023.10:g.148621367C>T

Select item 148936497717.

rs1489364977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:149527115 (GRCh38)
X:148608654 (GRCh37)
Canonical SPDI:: NC_000023.11:149527114:C:T
Gene:: EOLA1-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.149527115C>T, NW_004070890.2:g.5051513C>T, NG_042270.1:g.1051C>T, NC_000023.10:g.148608654C>T

Select item 148930296418.

rs1489302964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:149528060 (GRCh38)
X:148609599 (GRCh37)
Canonical SPDI:: NC_000023.11:149528059:C:T
Gene:: EOLA1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.149528060C>T, NW_004070890.2:g.5052458C>T, NG_042270.1:g.1996C>T, NC_000023.10:g.148609599C>T, NR_027455.5:n.1882G>A, NR_027455.3:n.1879G>A, NR_027455.4:n.1879G>A

Select item 148869626719.

rs1488696267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:149540752 (GRCh38)
X:148622297 (GRCh37)
Canonical SPDI:: NC_000023.11:149540751:C:G,NC_000023.11:149540751:C:T
Gene:: EOLA1 (Varview), EOLA1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.149540752C>G, NC_000023.11:g.149540752C>T, NW_004070890.2:g.5065150C>G, NW_004070890.2:g.5065150C>T, NC_000023.10:g.148622297C>G, NC_000023.10:g.148622297C>T, NM_001324275.2:c.-277C>G, NM_001324275.2:c.-277C>T, NM_001324275.1:c.-277C>G, NM_001324275.1:c.-277C>T, NM_001324274.2:c.-258C>G, NM_001324274.2:c.-258C>T, NM_001324274.1:c.-258C>G, NM_001324274.1:c.-258C>T

Select item 148838459220.

rs1488384592 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: X:149527608 (GRCh38)
X:148609147 (GRCh37)
Canonical SPDI:: NC_000023.11:149527607:A:
Gene:: EOLA1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.149527608del, NW_004070890.2:g.5052006del, NG_042270.1:g.1544del, NC_000023.10:g.148609147del, NR_027455.5:n.2334del, NR_027455.3:n.2331del, NR_027455.4:n.2331del

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