SNP Links for Gene (Select 11144) - SNP

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Select item 14915430101.

rs1491543010 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 22:38551857 (GRCh38)
22:38947863 (GRCh37)
Canonical SPDI:: NC_000022.11:38551857:TT:TTCTT
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.38551859_38551860insCTT, NC_000022.10:g.38947864_38947865insCTT, NG_017203.1:g.23327_23328insGAA

Select item 14914873082.

rs1491487308 has merged into rs1296043692 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:38533405 (GRCh38)
22:38929410 (GRCh37)
Canonical SPDI:: NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:38533395:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.38533405_38533416del, NC_000022.11:g.38533407_38533416del, NC_000022.11:g.38533410_38533416del, NC_000022.11:g.38533413_38533416del, NC_000022.11:g.38533415_38533416del, NC_000022.11:g.38533416del, NC_000022.11:g.38533416dup, NC_000022.11:g.38533415_38533416dup, NC_000022.11:g.38533414_38533416dup, NC_000022.11:g.38533413_38533416dup, NC_000022.11:g.38533412_38533416dup, NC_000022.11:g.38533411_38533416dup, NC_000022.11:g.38533410_38533416dup, NC_000022.11:g.38533409_38533416dup, NC_000022.11:g.38533408_38533416dup, NC_000022.11:g.38533407_38533416dup, NC_000022.11:g.38533404_38533416dup, NC_000022.11:g.38533416_38533417insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.38929410_38929421del, NC_000022.10:g.38929412_38929421del, NC_000022.10:g.38929415_38929421del, NC_000022.10:g.38929418_38929421del, NC_000022.10:g.38929420_38929421del, NC_000022.10:g.38929421del, NC_000022.10:g.38929421dup, NC_000022.10:g.38929420_38929421dup, NC_000022.10:g.38929419_38929421dup, NC_000022.10:g.38929418_38929421dup, NC_000022.10:g.38929417_38929421dup, NC_000022.10:g.38929416_38929421dup, NC_000022.10:g.38929415_38929421dup, NC_000022.10:g.38929414_38929421dup, NC_000022.10:g.38929413_38929421dup, NC_000022.10:g.38929412_38929421dup, NC_000022.10:g.38929409_38929421dup, NC_000022.10:g.38929421_38929422insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017203.1:g.41778_41789del, NG_017203.1:g.41780_41789del, NG_017203.1:g.41783_41789del, NG_017203.1:g.41786_41789del, NG_017203.1:g.41788_41789del, NG_017203.1:g.41789del, NG_017203.1:g.41789dup, NG_017203.1:g.41788_41789dup, NG_017203.1:g.41787_41789dup, NG_017203.1:g.41786_41789dup, NG_017203.1:g.41785_41789dup, NG_017203.1:g.41784_41789dup, NG_017203.1:g.41783_41789dup, NG_017203.1:g.41782_41789dup, NG_017203.1:g.41781_41789dup, NG_017203.1:g.41780_41789dup, NG_017203.1:g.41777_41789dup, NG_017203.1:g.41789_41790insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914566333.

rs1491456633 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 22:38557980 (GRCh38)
22:38953985 (GRCh37)
Canonical SPDI:: NC_000022.11:38557979:TG:
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.38557980_38557981del, NC_000022.10:g.38953985_38953986del, NG_017203.1:g.17204_17205del

Select item 14914146364.

rs1491414636 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:38568475 (GRCh38)
22:38964480 (GRCh37)
Canonical SPDI:: NC_000022.11:38568474:AT:
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.38568475_38568476del, NC_000022.10:g.38964480_38964481del, NG_017203.1:g.6709_6710del

Select item 14913798095.

rs1491379809 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AAAAA [Show Flanks]
Chromosome:: 22:38521590 (GRCh38)
22:38917595 (GRCh37)
Canonical SPDI:: NC_000022.11:38521588:AAAA:A,NC_000022.11:38521588:AAAA:AA,NC_000022.11:38521588:AAAA:AAAAAA
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000108/23 (GnomAD_exomes)
-=0.003914/49 (GoESP)
HGVS:: NC_000022.11:g.38521590_38521592del, NC_000022.11:g.38521591_38521592del, NC_000022.11:g.38521591_38521592dup, NC_000022.10:g.38917595_38917597del, NC_000022.10:g.38917596_38917597del, NC_000022.10:g.38917596_38917597dup, NG_017203.1:g.53594_53596del, NG_017203.1:g.53595_53596del, NG_017203.1:g.53595_53596dup

Select item 14913637206.

rs1491363720 has merged into rs71761663 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:38551867 (GRCh38)
22:38947872 (GRCh37)
Canonical SPDI:: NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38551856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DMC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.38551867_38551879del, NC_000022.11:g.38551868_38551879del, NC_000022.11:g.38551869_38551879del, NC_000022.11:g.38551870_38551879del, NC_000022.11:g.38551871_38551879del, NC_000022.11:g.38551872_38551879del, NC_000022.11:g.38551873_38551879del, NC_000022.11:g.38551874_38551879del, NC_000022.11:g.38551876_38551879del, NC_000022.11:g.38551877_38551879del, NC_000022.11:g.38551878_38551879del, NC_000022.11:g.38551879del, NC_000022.11:g.38551879dup, NC_000022.11:g.38551878_38551879dup, NC_000022.11:g.38551877_38551879dup, NC_000022.11:g.38551876_38551879dup, NC_000022.11:g.38551875_38551879dup, NC_000022.11:g.38551874_38551879dup, NC_000022.11:g.38551873_38551879dup, NC_000022.11:g.38551872_38551879dup, NC_000022.11:g.38551871_38551879dup, NC_000022.11:g.38551864_38551879dup, NC_000022.11:g.38551879_38551880insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.38551879_38551880insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.38947872_38947884del, NC_000022.10:g.38947873_38947884del, NC_000022.10:g.38947874_38947884del, NC_000022.10:g.38947875_38947884del, NC_000022.10:g.38947876_38947884del, NC_000022.10:g.38947877_38947884del, NC_000022.10:g.38947878_38947884del, NC_000022.10:g.38947879_38947884del, NC_000022.10:g.38947881_38947884del, NC_000022.10:g.38947882_38947884del, NC_000022.10:g.38947883_38947884del, NC_000022.10:g.38947884del, NC_000022.10:g.38947884dup, NC_000022.10:g.38947883_38947884dup, NC_000022.10:g.38947882_38947884dup, NC_000022.10:g.38947881_38947884dup, NC_000022.10:g.38947880_38947884dup, NC_000022.10:g.38947879_38947884dup, NC_000022.10:g.38947878_38947884dup, NC_000022.10:g.38947877_38947884dup, NC_000022.10:g.38947876_38947884dup, NC_000022.10:g.38947869_38947884dup, NC_000022.10:g.38947884_38947885insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.38947884_38947885insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_017203.1:g.23316_23328del, NG_017203.1:g.23317_23328del, NG_017203.1:g.23318_23328del, NG_017203.1:g.23319_23328del, NG_017203.1:g.23320_23328del, NG_017203.1:g.23321_23328del, NG_017203.1:g.23322_23328del, NG_017203.1:g.23323_23328del, NG_017203.1:g.23325_23328del, NG_017203.1:g.23326_23328del, NG_017203.1:g.23327_23328del, NG_017203.1:g.23328del, NG_017203.1:g.23328dup, NG_017203.1:g.23327_23328dup, NG_017203.1:g.23326_23328dup, NG_017203.1:g.23325_23328dup, NG_017203.1:g.23324_23328dup, NG_017203.1:g.23323_23328dup, NG_017203.1:g.23322_23328dup, NG_017203.1:g.23321_23328dup, NG_017203.1:g.23320_23328dup, NG_017203.1:g.23313_23328dup, NG_017203.1:g.23328_23329insAAAAAAAAAAAAAAAAAAAAAAAA, NG_017203.1:g.23328_23329insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912947207.

rs1491294720 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:38533396 (GRCh38)
22:38929402 (GRCh37)
Canonical SPDI:: NC_000022.11:38533396::C
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.38533396_38533397insC, NC_000022.10:g.38929401_38929402insC, NG_017203.1:g.41788_41789insG

Select item 14911762208.

rs1491176220 has merged into rs111317680 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACACACACACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 22:38521554 (GRCh38)
22:38917559 (GRCh37)
Canonical SPDI:: NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:38521538:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: DMC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
-=0.2107/812 (ALSPAC)
HGVS:: NC_000022.11:g.38521540CA[7], NC_000022.11:g.38521540CA[8], NC_000022.11:g.38521540CA[9], NC_000022.11:g.38521540CA[11], NC_000022.11:g.38521540CA[12], NC_000022.11:g.38521540CA[13], NC_000022.11:g.38521540CA[14], NC_000022.11:g.38521540CA[15], NC_000022.11:g.38521540CA[16], NC_000022.11:g.38521540CA[17], NC_000022.11:g.38521540CA[18], NC_000022.11:g.38521540CA[19], NC_000022.11:g.38521540CA[20], NC_000022.11:g.38521540CA[21], NC_000022.11:g.38521540CA[22], NC_000022.11:g.38521540CA[23], NC_000022.11:g.38521540CA[24], NC_000022.11:g.38521540CA[26], NC_000022.11:g.38521540CA[27], NC_000022.11:g.38521540CA[28], NC_000022.11:g.38521540CA[29], NC_000022.11:g.38521540CA[30], NC_000022.11:g.38521540CA[31], NC_000022.11:g.38521540CA[32], NC_000022.11:g.38521540CA[33], NC_000022.11:g.38521540CA[34], NC_000022.11:g.38521540CA[35], NC_000022.11:g.38521540CA[36], NC_000022.11:g.38521540CA[37], NC_000022.11:g.38521540CA[38], NC_000022.10:g.38917545CA[7], NC_000022.10:g.38917545CA[8], NC_000022.10:g.38917545CA[9], NC_000022.10:g.38917545CA[11], NC_000022.10:g.38917545CA[12], NC_000022.10:g.38917545CA[13], NC_000022.10:g.38917545CA[14], NC_000022.10:g.38917545CA[15], NC_000022.10:g.38917545CA[16], NC_000022.10:g.38917545CA[17], NC_000022.10:g.38917545CA[18], NC_000022.10:g.38917545CA[19], NC_000022.10:g.38917545CA[20], NC_000022.10:g.38917545CA[21], NC_000022.10:g.38917545CA[22], NC_000022.10:g.38917545CA[23], NC_000022.10:g.38917545CA[24], NC_000022.10:g.38917545CA[26], NC_000022.10:g.38917545CA[27], NC_000022.10:g.38917545CA[28], NC_000022.10:g.38917545CA[29], NC_000022.10:g.38917545CA[30], NC_000022.10:g.38917545CA[31], NC_000022.10:g.38917545CA[32], NC_000022.10:g.38917545CA[33], NC_000022.10:g.38917545CA[34], NC_000022.10:g.38917545CA[35], NC_000022.10:g.38917545CA[36], NC_000022.10:g.38917545CA[37], NC_000022.10:g.38917545CA[38], NG_017203.1:g.53597GT[7], NG_017203.1:g.53597GT[8], NG_017203.1:g.53597GT[9], NG_017203.1:g.53597GT[11], NG_017203.1:g.53597GT[12], NG_017203.1:g.53597GT[13], NG_017203.1:g.53597GT[14], NG_017203.1:g.53597GT[15], NG_017203.1:g.53597GT[16], NG_017203.1:g.53597GT[17], NG_017203.1:g.53597GT[18], NG_017203.1:g.53597GT[19], NG_017203.1:g.53597GT[20], NG_017203.1:g.53597GT[21], NG_017203.1:g.53597GT[22], NG_017203.1:g.53597GT[23], NG_017203.1:g.53597GT[24], NG_017203.1:g.53597GT[26], NG_017203.1:g.53597GT[27], NG_017203.1:g.53597GT[28], NG_017203.1:g.53597GT[29], NG_017203.1:g.53597GT[30], NG_017203.1:g.53597GT[31], NG_017203.1:g.53597GT[32], NG_017203.1:g.53597GT[33], NG_017203.1:g.53597GT[34], NG_017203.1:g.53597GT[35], NG_017203.1:g.53597GT[36], NG_017203.1:g.53597GT[37], NG_017203.1:g.53597GT[38]

Select item 14911735859.

rs1491173585 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA,TTTA,TTTTTA,TTTTTTTTTTTTTTTTTTTTTA,TTTTTTTTTTTTTTTTTTTTTAAG,TTTTTTTTTTTTTTTTTTTTTTA,TTTTTTTTTTTTTTTTTTTTTTAG,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTAG,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGG,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA [Show Flanks]
Chromosome:: 22:38557980 (GRCh38)
22:38953986 (GRCh37)
Canonical SPDI:: NC_000022.11:38557980::TTA,NC_000022.11:38557980::TTTA,NC_000022.11:38557980::TTTTTA,NC_000022.11:38557980::TTTTTTTTTTTTTTTTTTTTTA,NC_000022.11:38557980::TTTTTTTTTTTTTTTTTTTTTAAG,NC_000022.11:38557980::TTTTTTTTTTTTTTTTTTTTTTA,NC_000022.11:38557980::TTTTTTTTTTTTTTTTTTTTTTAG,NC_000022.11:38557980::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTAG,NC_000022.11:38557980::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGG,NC_000022.11:38557980::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTA=0.000008/1 (GnomAD)
HGVS:: NC_000022.11:g.38557980_38557981insTTA, NC_000022.11:g.38557980_38557981insTTTA, NC_000022.11:g.38557980_38557981insTTTTTA, NC_000022.11:g.38557980_38557981insTTTTTTTTTTTTTTTTTTTTTA, NC_000022.11:g.38557980_38557981insTTTTTTTTTTTTTTTTTTTTTAAG, NC_000022.11:g.38557980_38557981insTTTTTTTTTTTTTTTTTTTTTTA, NC_000022.11:g.38557980_38557981insTTTTTTTTTTTTTTTTTTTTTTAG, NC_000022.11:g.38557980_38557981insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAG, NC_000022.11:g.38557980_38557981insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGG, NC_000022.11:g.38557980_38557981insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA, NC_000022.10:g.38953985_38953986insTTA, NC_000022.10:g.38953985_38953986insTTTA, NC_000022.10:g.38953985_38953986insTTTTTA, NC_000022.10:g.38953985_38953986insTTTTTTTTTTTTTTTTTTTTTA, NC_000022.10:g.38953985_38953986insTTTTTTTTTTTTTTTTTTTTTAAG, NC_000022.10:g.38953985_38953986insTTTTTTTTTTTTTTTTTTTTTTA, NC_000022.10:g.38953985_38953986insTTTTTTTTTTTTTTTTTTTTTTAG, NC_000022.10:g.38953985_38953986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAG, NC_000022.10:g.38953985_38953986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGG, NC_000022.10:g.38953985_38953986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA, NG_017203.1:g.17204_17205insTAA, NG_017203.1:g.17204_17205insTAAA, NG_017203.1:g.17204_17205insTAAAAA, NG_017203.1:g.17204_17205insTAAAAAAAAAAAAAAAAAAAAA, NG_017203.1:g.17204_17205insCTTAAAAAAAAAAAAAAAAAAAAA, NG_017203.1:g.17204_17205insTAAAAAAAAAAAAAAAAAAAAAA, NG_017203.1:g.17204_17205insCTAAAAAAAAAAAAAAAAAAAAAA, NG_017203.1:g.17204_17205insCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017203.1:g.17204_17205insCCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017203.1:g.17204_17205insTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149113495610.

rs1491134956 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 22:38568472 (GRCh38)
22:38964478 (GRCh37)
Canonical SPDI:: NC_000022.11:38568472:GC:GCGC
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GCGC=0./0 (ALFA)
GC=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.38568473_38568474dup, NC_000022.10:g.38964478_38964479dup, NG_017203.1:g.6711_6712dup

Select item 149111598311.

rs1491115983 has merged into rs368751544 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 22:38568485 (GRCh38)
22:38964490 (GRCh37)
Canonical SPDI:: NC_000022.11:38568475:TGTGTGTGTGTGT:TGTGTGTGT,NC_000022.11:38568475:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000022.11:38568475:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT
Gene:: DMC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000022.11:g.38568477GT[4], NC_000022.11:g.38568477GT[5], NC_000022.11:g.38568477GT[7], NC_000022.10:g.38964482GT[4], NC_000022.10:g.38964482GT[5], NC_000022.10:g.38964482GT[7], NG_017203.1:g.6698CA[4], NG_017203.1:g.6698CA[5], NG_017203.1:g.6698CA[7]

Select item 149094228212.

rs1490942282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:38522255 (GRCh38)
22:38918260 (GRCh37)
Canonical SPDI:: NC_000022.11:38522254:T:C
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.38522255T>C, NC_000022.10:g.38918260T>C, NG_017203.1:g.52930A>G

Select item 149080716313.

rs1490807163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:38508849 (GRCh38)
22:38904854 (GRCh37)
Canonical SPDI:: NC_000022.11:38508848:C:G
Gene:: DMC1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.38508849C>G, NC_000022.10:g.38904854C>G, NG_029642.1:g.2492G>C

Select item 149079483114.

rs1490794831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:38531953 (GRCh38)
22:38927958 (GRCh37)
Canonical SPDI:: NC_000022.11:38531952:C:T
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.38531953C>T, NC_000022.10:g.38927958C>T, NG_017203.1:g.43232G>A

Select item 149075113215.

rs1490751132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:38514924 (GRCh38)
22:38910929 (GRCh37)
Canonical SPDI:: NC_000022.11:38514923:T:C,NC_000022.11:38514923:T:G
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.38514924T>C, NC_000022.11:g.38514924T>G, NC_000022.10:g.38910929T>C, NC_000022.10:g.38910929T>G, NG_067104.1:g.453T>C, NG_067104.1:g.453T>G

Select item 149062630716.

rs1490626307 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:38532423 (GRCh38)
22:38928428 (GRCh37)
Canonical SPDI:: NC_000022.11:38532422:A:G
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.38532423A>G, NC_000022.10:g.38928428A>G, NG_017203.1:g.42762T>C

Select item 149060414217.

rs1490604142 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:38548304 (GRCh38)
22:38944309 (GRCh37)
Canonical SPDI:: NC_000022.11:38548303:T:C
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000034/9 (TOPMED)
C=0.000106/2 (TOMMO)
C=0.002183/4 (Korea1K)
HGVS:: NC_000022.11:g.38548304T>C, NC_000022.10:g.38944309T>C, NG_017203.1:g.26881A>G

Select item 149058199018.

rs1490581990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:38515270 (GRCh38)
22:38911275 (GRCh37)
Canonical SPDI:: NC_000022.11:38515269:G:T
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000022.11:g.38515270G>T, NC_000022.10:g.38911275G>T

Select item 149057003419.

rs1490570034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:38531203 (GRCh38)
22:38927208 (GRCh37)
Canonical SPDI:: NC_000022.11:38531202:C:G
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.38531203C>G, NC_000022.10:g.38927208C>G, NG_017203.1:g.43982G>C

Select item 149044549320.

rs1490445493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 22:38556633 (GRCh38)
22:38952638 (GRCh37)
Canonical SPDI:: NC_000022.11:38556632:G:C,NC_000022.11:38556632:G:T
Gene:: DMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.38556633G>C, NC_000022.11:g.38556633G>T, NC_000022.10:g.38952638G>C, NC_000022.10:g.38952638G>T, NG_017203.1:g.18552C>G, NG_017203.1:g.18552C>A

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