SNP Links for Gene (Select 4552) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915380351.

rs1491538035 has merged into rs11398509 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:7885678 (GRCh38)
5:7885791 (GRCh37)
Canonical SPDI:: NC_000005.10:7885669:TTTTTTTTTTTT:TTTTTTTT,NC_000005.10:7885669:TTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:7885669:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:7885669:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:7885669:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:7885669:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:7885669:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.08727/24 (1000Genomes)
HGVS:: NC_000005.10:g.7885678_7885681del, NC_000005.10:g.7885680_7885681del, NC_000005.10:g.7885681del, NC_000005.10:g.7885681dup, NC_000005.10:g.7885680_7885681dup, NC_000005.10:g.7885679_7885681dup, NC_000005.10:g.7885681_7885682insTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.7885791_7885794del, NC_000005.9:g.7885793_7885794del, NC_000005.9:g.7885794del, NC_000005.9:g.7885794dup, NC_000005.9:g.7885793_7885794dup, NC_000005.9:g.7885792_7885794dup, NC_000005.9:g.7885794_7885795insTTTTTTTTTTTTTTTTTTT, NG_008856.1:g.21575_21578del, NG_008856.1:g.21577_21578del, NG_008856.1:g.21578del, NG_008856.1:g.21578dup, NG_008856.1:g.21577_21578dup, NG_008856.1:g.21576_21578dup, NG_008856.1:g.21578_21579insTTTTTTTTTTTTTTTTTTT

Select item 14915225292.

rs1491522529 has merged into rs5865743 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:7874596 (GRCh38)
5:7874709 (GRCh37)
Canonical SPDI:: NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7874588:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TT=0.402356/2015 (1000Genomes)
HGVS:: NC_000005.10:g.7874596_7874610del, NC_000005.10:g.7874599_7874610del, NC_000005.10:g.7874601_7874610del, NC_000005.10:g.7874604_7874610del, NC_000005.10:g.7874605_7874610del, NC_000005.10:g.7874606_7874610del, NC_000005.10:g.7874607_7874610del, NC_000005.10:g.7874608_7874610del, NC_000005.10:g.7874609_7874610del, NC_000005.10:g.7874610del, NC_000005.10:g.7874610dup, NC_000005.10:g.7874609_7874610dup, NC_000005.10:g.7874608_7874610dup, NC_000005.10:g.7874607_7874610dup, NC_000005.10:g.7874606_7874610dup, NC_000005.10:g.7874605_7874610dup, NC_000005.10:g.7874604_7874610dup, NC_000005.10:g.7874603_7874610dup, NC_000005.10:g.7874600_7874610dup, NC_000005.10:g.7874596_7874610dup, NC_000005.10:g.7874593_7874610dup, NC_000005.10:g.7874592_7874610dup, NC_000005.10:g.7874590_7874610dup, NC_000005.9:g.7874709_7874723del, NC_000005.9:g.7874712_7874723del, NC_000005.9:g.7874714_7874723del, NC_000005.9:g.7874717_7874723del, NC_000005.9:g.7874718_7874723del, NC_000005.9:g.7874719_7874723del, NC_000005.9:g.7874720_7874723del, NC_000005.9:g.7874721_7874723del, NC_000005.9:g.7874722_7874723del, NC_000005.9:g.7874723del, NC_000005.9:g.7874723dup, NC_000005.9:g.7874722_7874723dup, NC_000005.9:g.7874721_7874723dup, NC_000005.9:g.7874720_7874723dup, NC_000005.9:g.7874719_7874723dup, NC_000005.9:g.7874718_7874723dup, NC_000005.9:g.7874717_7874723dup, NC_000005.9:g.7874716_7874723dup, NC_000005.9:g.7874713_7874723dup, NC_000005.9:g.7874709_7874723dup, NC_000005.9:g.7874706_7874723dup, NC_000005.9:g.7874705_7874723dup, NC_000005.9:g.7874703_7874723dup, NG_008856.1:g.10493_10507del, NG_008856.1:g.10496_10507del, NG_008856.1:g.10498_10507del, NG_008856.1:g.10501_10507del, NG_008856.1:g.10502_10507del, NG_008856.1:g.10503_10507del, NG_008856.1:g.10504_10507del, NG_008856.1:g.10505_10507del, NG_008856.1:g.10506_10507del, NG_008856.1:g.10507del, NG_008856.1:g.10507dup, NG_008856.1:g.10506_10507dup, NG_008856.1:g.10505_10507dup, NG_008856.1:g.10504_10507dup, NG_008856.1:g.10503_10507dup, NG_008856.1:g.10502_10507dup, NG_008856.1:g.10501_10507dup, NG_008856.1:g.10500_10507dup, NG_008856.1:g.10497_10507dup, NG_008856.1:g.10493_10507dup, NG_008856.1:g.10490_10507dup, NG_008856.1:g.10489_10507dup, NG_008856.1:g.10487_10507dup

Select item 14914757643.

rs1491475764 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:7887793 (GRCh38)
5:7887906 (GRCh37)
Canonical SPDI:: NC_000005.10:7887792:CA:
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00062/1 (Korea1K)
HGVS:: NC_000005.10:g.7887793_7887794del, NC_000005.9:g.7887906_7887907del, NG_008856.1:g.23690_23691del

Select item 14914588574.

rs1491458857 has merged into rs11324670 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:7877514 (GRCh38)
5:7877627 (GRCh37)
Canonical SPDI:: NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7877503:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.372/1863 (1000Genomes)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000005.10:g.7877514_7877522del, NC_000005.10:g.7877515_7877522del, NC_000005.10:g.7877516_7877522del, NC_000005.10:g.7877517_7877522del, NC_000005.10:g.7877518_7877522del, NC_000005.10:g.7877519_7877522del, NC_000005.10:g.7877520_7877522del, NC_000005.10:g.7877521_7877522del, NC_000005.10:g.7877522del, NC_000005.10:g.7877522dup, NC_000005.10:g.7877521_7877522dup, NC_000005.10:g.7877520_7877522dup, NC_000005.10:g.7877519_7877522dup, NC_000005.10:g.7877517_7877522dup, NC_000005.10:g.7877516_7877522dup, NC_000005.10:g.7877504_7877522A[25]TTAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.7877627_7877635del, NC_000005.9:g.7877628_7877635del, NC_000005.9:g.7877629_7877635del, NC_000005.9:g.7877630_7877635del, NC_000005.9:g.7877631_7877635del, NC_000005.9:g.7877632_7877635del, NC_000005.9:g.7877633_7877635del, NC_000005.9:g.7877634_7877635del, NC_000005.9:g.7877635del, NC_000005.9:g.7877635dup, NC_000005.9:g.7877634_7877635dup, NC_000005.9:g.7877633_7877635dup, NC_000005.9:g.7877632_7877635dup, NC_000005.9:g.7877630_7877635dup, NC_000005.9:g.7877629_7877635dup, NC_000005.9:g.7877617_7877635A[25]TTAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_008856.1:g.13411_13419del, NG_008856.1:g.13412_13419del, NG_008856.1:g.13413_13419del, NG_008856.1:g.13414_13419del, NG_008856.1:g.13415_13419del, NG_008856.1:g.13416_13419del, NG_008856.1:g.13417_13419del, NG_008856.1:g.13418_13419del, NG_008856.1:g.13419del, NG_008856.1:g.13419dup, NG_008856.1:g.13418_13419dup, NG_008856.1:g.13417_13419dup, NG_008856.1:g.13416_13419dup, NG_008856.1:g.13414_13419dup, NG_008856.1:g.13413_13419dup, NG_008856.1:g.13401_13419A[25]TTAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914147665.

rs1491414766 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:7879462 (GRCh38)
5:7879575 (GRCh37)
Canonical SPDI:: NC_000005.10:7879461:CA:
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01661/197 (ALFA)
-=0.00188/53 (TOMMO)
HGVS:: NC_000005.10:g.7879462_7879463del, NC_000005.9:g.7879575_7879576del, NG_008856.1:g.15359_15360del

Select item 14914103886.

rs1491410388 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATACATATATATA,CATACATATATATATA,CATACATATATATATATA,CATATACATATATATATATA,CATATATACATATATATA,CATATATACATATATATATATA,CATATATATA,CATATATATATA,CATATATATATATA,CATATATATATATACATATATATA,CATATATATATATATA,CATATATATATATATATA,CATATATATATATATATATA,CATATATATATATATATATATA,CATATATATATATATATATATATA,CATATATATATATATATATATATATA,CATATATATATATATATATATATATATA,CATATATATATATATATATATATATATATA,CATATATATATATATATATATATATATATATA,CATATATATATATATATATATATATATATATATA,CATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 5:7887793 (GRCh38)
5:7887907 (GRCh37)
Canonical SPDI:: NC_000005.10:7887793:ATATATA:ATATATACATACATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATACATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATACATATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATACATATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATACATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATACATATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATATATACATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATATATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATATATATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATATATATATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATATATATATATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATATATATATATATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATATATATATATATATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATATATATATATATATATATATATATA,NC_000005.10:7887793:ATATATA:ATATATACATATATATATATATATATATATATATATATATATA
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATACATATATATA=0./0 (ALFA)
ATATATACATATATATAT=0.05619/1586 (TOMMO)
HGVS:: NC_000005.10:g.7887794_7887800AT[3]ACAT[2]AT[3]A[1], NC_000005.10:g.7887794_7887800AT[3]ACAT[2]AT[4]A[1], NC_000005.10:g.7887794_7887800AT[3]ACAT[2]AT[5]A[1], NC_000005.10:g.7887794_7887800AT[3]ACATAT[2]AT[4]A[1], NC_000005.10:g.7887794_7887800ATATATAC[2]AT[4]A[1], NC_000005.10:g.7887794_7887800ATATATAC[2]AT[6]A[1], NC_000005.10:g.7887794_7887800AT[3]ACATATATATA[1], NC_000005.10:g.7887794_7887800AT[3]ACATATATATATA[1], NC_000005.10:g.7887794_7887800AT[3]ACATATATATATATA[1], NC_000005.10:g.7887794_7887800ATATATACATATAT[2]ATA[1], NC_000005.10:g.7887794_7887800AT[3]ACATATATATATATATA[1], NC_000005.10:g.7887794_7887800AT[3]ACATATATATATATATATA[1], NC_000005.10:g.7887794_7887800AT[3]ACATATATATATATATATATA[1], NC_000005.10:g.7887794_7887800AT[3]ACATATATATATATATATATATA[1], NC_000005.10:g.7887794_7887800AT[3]ACATATATATATATATATATATATA[1], NC_000005.10:g.7887794_7887800AT[3]ACATATATATATATATATATATATATA[1], NC_000005.10:g.7887794_7887800AT[3]ACATATATATATATATATATATATATATA[1], NC_000005.10:g.7887794_7887800AT[3]ACATATATATATATATATATATATATATATA[1], NC_000005.10:g.7887794_7887800AT[3]ACATATATATATATATATATATATATATATATA[1], NC_000005.10:g.7887794_7887800AT[3]ACATATATATATATATATATATATATATATATATA[1], NC_000005.10:g.7887794_7887800AT[3]ACATATATATATATATATATATATATATATATATATA[1], NC_000005.9:g.7887907_7887913AT[3]ACAT[2]AT[3]A[1], NC_000005.9:g.7887907_7887913AT[3]ACAT[2]AT[4]A[1], NC_000005.9:g.7887907_7887913AT[3]ACAT[2]AT[5]A[1], NC_000005.9:g.7887907_7887913AT[3]ACATAT[2]AT[4]A[1], NC_000005.9:g.7887907_7887913ATATATAC[2]AT[4]A[1], NC_000005.9:g.7887907_7887913ATATATAC[2]AT[6]A[1], NC_000005.9:g.7887907_7887913AT[3]ACATATATATA[1], NC_000005.9:g.7887907_7887913AT[3]ACATATATATATA[1], NC_000005.9:g.7887907_7887913AT[3]ACATATATATATATA[1], NC_000005.9:g.7887907_7887913ATATATACATATAT[2]ATA[1], NC_000005.9:g.7887907_7887913AT[3]ACATATATATATATATA[1], NC_000005.9:g.7887907_7887913AT[3]ACATATATATATATATATA[1], NC_000005.9:g.7887907_7887913AT[3]ACATATATATATATATATATA[1], NC_000005.9:g.7887907_7887913AT[3]ACATATATATATATATATATATA[1], NC_000005.9:g.7887907_7887913AT[3]ACATATATATATATATATATATATA[1], NC_000005.9:g.7887907_7887913AT[3]ACATATATATATATATATATATATATA[1], NC_000005.9:g.7887907_7887913AT[3]ACATATATATATATATATATATATATATA[1], NC_000005.9:g.7887907_7887913AT[3]ACATATATATATATATATATATATATATATA[1], NC_000005.9:g.7887907_7887913AT[3]ACATATATATATATATATATATATATATATATA[1], NC_000005.9:g.7887907_7887913AT[3]ACATATATATATATATATATATATATATATATATA[1], NC_000005.9:g.7887907_7887913AT[3]ACATATATATATATATATATATATATATATATATATA[1], NG_008856.1:g.23691_23697AT[3]ACAT[2]AT[3]A[1], NG_008856.1:g.23691_23697AT[3]ACAT[2]AT[4]A[1], NG_008856.1:g.23691_23697AT[3]ACAT[2]AT[5]A[1], NG_008856.1:g.23691_23697AT[3]ACATAT[2]AT[4]A[1], NG_008856.1:g.23691_23697ATATATAC[2]AT[4]A[1], NG_008856.1:g.23691_23697ATATATAC[2]AT[6]A[1], NG_008856.1:g.23691_23697AT[3]ACATATATATA[1], NG_008856.1:g.23691_23697AT[3]ACATATATATATA[1], NG_008856.1:g.23691_23697AT[3]ACATATATATATATA[1], NG_008856.1:g.23691_23697ATATATACATATAT[2]ATA[1], NG_008856.1:g.23691_23697AT[3]ACATATATATATATATA[1], NG_008856.1:g.23691_23697AT[3]ACATATATATATATATATA[1], NG_008856.1:g.23691_23697AT[3]ACATATATATATATATATATA[1], NG_008856.1:g.23691_23697AT[3]ACATATATATATATATATATATA[1], NG_008856.1:g.23691_23697AT[3]ACATATATATATATATATATATATA[1], NG_008856.1:g.23691_23697AT[3]ACATATATATATATATATATATATATA[1], NG_008856.1:g.23691_23697AT[3]ACATATATATATATATATATATATATATA[1], NG_008856.1:g.23691_23697AT[3]ACATATATATATATATATATATATATATATA[1], NG_008856.1:g.23691_23697AT[3]ACATATATATATATATATATATATATATATATA[1], NG_008856.1:g.23691_23697AT[3]ACATATATATATATATATATATATATATATATATA[1], NG_008856.1:g.23691_23697AT[3]ACATATATATATATATATATATATATATATATATATA[1]

Select item 14913371657.

rs1491337165 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:7874610 (GRCh38)
5:7874724 (GRCh37)
Canonical SPDI:: NC_000005.10:7874610:A:AA
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.7874611dup, NC_000005.9:g.7874724dup, NG_008856.1:g.10508dup

Select item 14913182588.

rs1491318258 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:7874610 (GRCh38)
5:7874723 (GRCh37)
Canonical SPDI:: NC_000005.10:7874609:TA:
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000023/3 (GnomAD)
HGVS:: NC_000005.10:g.7874610_7874611del, NC_000005.9:g.7874723_7874724del, NG_008856.1:g.10507_10508del

Select item 14913082119.

rs1491308211 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:7877503 (GRCh38)
5:7877616 (GRCh37)
Canonical SPDI:: NC_000005.10:7877502:CA:
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000005.10:g.7877503_7877504del, NC_000005.9:g.7877616_7877617del, NG_008856.1:g.13400_13401del

Select item 149127820210.

rs1491278202 [Homo sapiens]

Variant type:: INS
Alleles:: ->AATATATATATA,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATATA,TGCATA,TGTGCA [Show Flanks]
Chromosome:: 5:7887792 (GRCh38)
5:7887906 (GRCh37)
Canonical SPDI:: NC_000005.10:7887792::AATATATATATA,NC_000005.10:7887792::TA,NC_000005.10:7887792::TATA,NC_000005.10:7887792::TATATA,NC_000005.10:7887792::TATATATA,NC_000005.10:7887792::TATATATATA,NC_000005.10:7887792::TATATATATATATATA,NC_000005.10:7887792::TATATATATATATATATA,NC_000005.10:7887792::TATATATATATATATATATA,NC_000005.10:7887792::TATATATATATATATATATATATA,NC_000005.10:7887792::TGCATA,NC_000005.10:7887792::TGTGCA
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATA=0./0 (ALFA)
HGVS:: NC_000005.10:g.7887792_7887793insAATATATATATA, NC_000005.10:g.7887792_7887793insTA, NC_000005.10:g.7887792_7887793insTATA, NC_000005.10:g.7887792_7887793insTATATA, NC_000005.10:g.7887792_7887793insTATATATA, NC_000005.10:g.7887792_7887793insTATATATATA, NC_000005.10:g.7887792_7887793insTATATATATATATATA, NC_000005.10:g.7887792_7887793insTATATATATATATATATA, NC_000005.10:g.7887792_7887793insTATATATATATATATATATA, NC_000005.10:g.7887792_7887793insTATATATATATATATATATATATA, NC_000005.10:g.7887792_7887793insTGCATA, NC_000005.10:g.7887792_7887793insTGTGCA, NC_000005.9:g.7887905_7887906insAATATATATATA, NC_000005.9:g.7887905_7887906insTA, NC_000005.9:g.7887905_7887906insTATA, NC_000005.9:g.7887905_7887906insTATATA, NC_000005.9:g.7887905_7887906insTATATATA, NC_000005.9:g.7887905_7887906insTATATATATA, NC_000005.9:g.7887905_7887906insTATATATATATATATA, NC_000005.9:g.7887905_7887906insTATATATATATATATATA, NC_000005.9:g.7887905_7887906insTATATATATATATATATATA, NC_000005.9:g.7887905_7887906insTATATATATATATATATATATATA, NC_000005.9:g.7887905_7887906insTGCATA, NC_000005.9:g.7887905_7887906insTGTGCA, NG_008856.1:g.23689_23690insAATATATATATA, NG_008856.1:g.23689_23690insTA, NG_008856.1:g.23689_23690insTATA, NG_008856.1:g.23689_23690insTATATA, NG_008856.1:g.23689_23690insTATATATA, NG_008856.1:g.23689_23690insTATATATATA, NG_008856.1:g.23689_23690insTATATATATATATATA, NG_008856.1:g.23689_23690insTATATATATATATATATA, NG_008856.1:g.23689_23690insTATATATATATATATATATA, NG_008856.1:g.23689_23690insTATATATATATATATATATATATA, NG_008856.1:g.23689_23690insTGCATA, NG_008856.1:g.23689_23690insTGTGCA

Select item 149123154611.

rs1491231546 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:7874588 (GRCh38)
5:7874701 (GRCh37)
Canonical SPDI:: NC_000005.10:7874587:CT:
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000005.10:g.7874588_7874589del, NC_000005.9:g.7874701_7874702del, NG_008856.1:g.10485_10486del

Select item 149121464512.

rs1491214645 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 5:7887792 (GRCh38)
5:7887905 (GRCh37)
Canonical SPDI:: NC_000005.10:7887791:GC:
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00042/5 (ALFA)
-=0.00144/78 (GnomAD)
-=0.00308/51 (TOMMO)
HGVS:: NC_000005.10:g.7887792_7887793del, NC_000005.9:g.7887905_7887906del, NG_008856.1:g.23689_23690del

Select item 149110804613.

rs1491108046 has merged into rs35558077 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:7879473 (GRCh38)
5:7879586 (GRCh37)
Canonical SPDI:: NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:7879462:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.7879473_7879485del, NC_000005.10:g.7879474_7879485del, NC_000005.10:g.7879476_7879485del, NC_000005.10:g.7879477_7879485del, NC_000005.10:g.7879478_7879485del, NC_000005.10:g.7879479_7879485del, NC_000005.10:g.7879480_7879485del, NC_000005.10:g.7879481_7879485del, NC_000005.10:g.7879482_7879485del, NC_000005.10:g.7879483_7879485del, NC_000005.10:g.7879484_7879485del, NC_000005.10:g.7879485del, NC_000005.10:g.7879485dup, NC_000005.10:g.7879484_7879485dup, NC_000005.10:g.7879483_7879485dup, NC_000005.10:g.7879482_7879485dup, NC_000005.10:g.7879480_7879485dup, NC_000005.10:g.7879479_7879485dup, NC_000005.10:g.7879477_7879485dup, NC_000005.10:g.7879485_7879486insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.7879485_7879486insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.7879485_7879486insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.7879586_7879598del, NC_000005.9:g.7879587_7879598del, NC_000005.9:g.7879589_7879598del, NC_000005.9:g.7879590_7879598del, NC_000005.9:g.7879591_7879598del, NC_000005.9:g.7879592_7879598del, NC_000005.9:g.7879593_7879598del, NC_000005.9:g.7879594_7879598del, NC_000005.9:g.7879595_7879598del, NC_000005.9:g.7879596_7879598del, NC_000005.9:g.7879597_7879598del, NC_000005.9:g.7879598del, NC_000005.9:g.7879598dup, NC_000005.9:g.7879597_7879598dup, NC_000005.9:g.7879596_7879598dup, NC_000005.9:g.7879595_7879598dup, NC_000005.9:g.7879593_7879598dup, NC_000005.9:g.7879592_7879598dup, NC_000005.9:g.7879590_7879598dup, NC_000005.9:g.7879598_7879599insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.7879598_7879599insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.7879598_7879599insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008856.1:g.15370_15382del, NG_008856.1:g.15371_15382del, NG_008856.1:g.15373_15382del, NG_008856.1:g.15374_15382del, NG_008856.1:g.15375_15382del, NG_008856.1:g.15376_15382del, NG_008856.1:g.15377_15382del, NG_008856.1:g.15378_15382del, NG_008856.1:g.15379_15382del, NG_008856.1:g.15380_15382del, NG_008856.1:g.15381_15382del, NG_008856.1:g.15382del, NG_008856.1:g.15382dup, NG_008856.1:g.15381_15382dup, NG_008856.1:g.15380_15382dup, NG_008856.1:g.15379_15382dup, NG_008856.1:g.15377_15382dup, NG_008856.1:g.15376_15382dup, NG_008856.1:g.15374_15382dup, NG_008856.1:g.15382_15383insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008856.1:g.15382_15383insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008856.1:g.15382_15383insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149094028414.

rs1490940284 [Homo sapiens]

Variant type:: DEL
Alleles:: CATAT>- [Show Flanks]
Chromosome:: 5:7868234 (GRCh38)
5:7868347 (GRCh37)
Canonical SPDI:: NC_000005.10:7868233:CATAT:
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0013/6 (ALFA)
-=0.0013/6 (Estonian)
HGVS:: NC_000005.10:g.7868234_7868238del, NC_000005.9:g.7868347_7868351del, NG_008856.1:g.4131_4135del, NG_033101.1:g.5800_5804del

Select item 149081015115.

rs1490810151 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:7890359 (GRCh38)
5:7890472 (GRCh37)
Canonical SPDI:: NC_000005.10:7890358:T:A
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.7890359T>A, NC_000005.9:g.7890472T>A, NG_008856.1:g.26256T>A, NR_157176.2:n.1682T>A, NR_157176.1:n.1682T>A, NR_157175.2:n.1519T>A, NR_157175.1:n.1519T>A, NR_157174.2:n.1365T>A, NR_157174.1:n.1365T>A, XM_047417235.1:c.1449T>A, XM_047417236.1:c.*64T>A

Select item 149080869516.

rs1490808695 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:7875888 (GRCh38)
5:7876002 (GRCh37)
Canonical SPDI:: NC_000005.10:7875888:TTT:TTTT
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0.000084/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.7875891dup, NC_000005.9:g.7876004dup, NG_008856.1:g.11788dup

Select item 149075521317.

rs1490755213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:7876786 (GRCh38)
5:7876899 (GRCh37)
Canonical SPDI:: NC_000005.10:7876785:T:G
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.7876786T>G, NC_000005.9:g.7876899T>G, NG_008856.1:g.12683T>G

Select item 149065034018.

rs1490650340 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:7890774 (GRCh38)
5:7890887 (GRCh37)
Canonical SPDI:: NC_000005.10:7890773:A:G
Gene:: MTRR (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.7890774A>G, NC_000005.9:g.7890887A>G, NG_008856.1:g.26671A>G

Select item 149038369419.

rs1490383694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:7869383 (GRCh38)
5:7869496 (GRCh37)
Canonical SPDI:: NC_000005.10:7869382:C:T
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.7869383C>T, NC_000005.9:g.7869496C>T, NG_008856.1:g.5280C>T, NM_001364440.2:c.-699C>T, NM_001364440.1:c.-699C>T, NM_001364441.2:c.-361C>T, NM_001364441.1:c.-361C>T, NG_033101.1:g.4655G>A

Select item 149038153720.

rs1490381537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:7886652 (GRCh38)
5:7886765 (GRCh37)
Canonical SPDI:: NC_000005.10:7886651:T:C
Gene:: MTRR (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000049/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
C=0.000036/5 (GnomAD)
HGVS:: NC_000005.10:g.7886652T>C, NC_000005.9:g.7886765T>C, NG_008856.1:g.22549T>C, NM_024010.4:c.1095T>C, NM_024010.3:c.1095T>C, NM_024010.2:c.1176T>C, NM_002454.3:c.1095T>C, NM_002454.2:c.1095T>C, NM_001364440.2:c.1095T>C, NM_001364440.1:c.1095T>C, NM_001364441.2:c.1095T>C, NM_001364441.1:c.1095T>C, NR_157176.2:n.1328T>C, NR_157176.1:n.1328T>C, NR_157175.2:n.1188T>C, NR_157175.1:n.1188T>C, NM_001364442.2:c.1095T>C, NM_001364442.1:c.1095T>C, NR_157178.2:n.1188T>C, NR_157178.1:n.1188T>C, NR_157174.2:n.1034T>C, NR_157174.1:n.1034T>C, NR_157173.2:n.1162T>C, NR_157173.1:n.1162T>C, NR_157177.2:n.1183T>C, NR_157177.1:n.1183T>C, NR_157170.2:n.1174T>C, NR_157170.1:n.1174T>C, NR_134480.2:n.1174T>C, NR_134480.1:n.1218T>C, NR_157168.2:n.1148T>C, NR_157168.1:n.1148T>C, NR_134482.2:n.1034T>C, NR_134482.1:n.1078T>C, NR_157171.2:n.1008T>C, NR_157171.1:n.1008T>C, NR_157169.2:n.1008T>C, NR_157169.1:n.1008T>C, XM_024446064.2:c.1095T>C, XM_024446064.1:c.1095T>C, XM_047417233.1:c.1095T>C, XM_047417234.1:c.1095T>C, XM_047417235.1:c.1095T>C, XM_047417236.1:c.1095T>C

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity